P19878
PR
Gene name |
NCF2 (NOXA2, P67PHOX) |
Protein name |
Neutrophil cytosol factor 2 |
Names |
NCF-2, 67 kDa neutrophil oxidase factor, NADPH oxidase activator 2, Neutrophil NADPH oxidase factor 2, p67-phox |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4688 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
414 variants for P19878
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA33993122 RCV000791651 rs995270345 |
7 | I>M | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000695278 rs1290169467 |
14 | V>missing | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1285071 rs758057222 RCV000642278 |
17 | A>T | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs796065033 RCV000494542 RCV000002333 |
19 | K>missing | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_017387 | 19 | K>del | CGD2 [UniProt] | Yes | UniProt |
|
rs1673581250 RCV001050845 |
22 | W>R | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1285061 rs201869337 RCV001038440 RCV002551421 |
32 | V>I | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs147415774 CA1285055 RCV002222475 RCV000313929 RCV001085219 |
38 | R>Q | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1285056 COSM1689399 RCV000794385 rs200824291 |
38 | R>W | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000059357 VAR_065002 CA145205 rs137854514 |
42 | N>S | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 CGD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000430894 RCV000059359 rs137854510 VAR_065003 CA145209 |
44 | G>C | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 CGD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000059358 CA145207 VAR_065004 rs137854510 |
44 | G>R | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 CGD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1673575856 RCV001307894 |
46 | M>I | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs993538958 RCV001219158 CA33992941 |
53 | M>V | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
| VAR_065005 | 58 | K>del | CGD2 [UniProt] | Yes | UniProt |
|
RCV000801293 CA1285034 rs778546412 |
65 | N>S | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001172222 rs750782115 CA1285032 RCV002558732 |
66 | R>* | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs142803799 CA1285030 RCV000933372 RCV003169367 |
66 | R>Q | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1673381111 RCV001299845 |
67 | D>G | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA115435 rs119103275 RCV000002335 VAR_017388 |
77 | R>Q | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 CGD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA145211 RCV000059360 rs137854519 VAR_008904 |
78 | G>E | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 CGD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA1285022 rs201003183 RCV002538047 RCV000809135 |
82 | Y>N | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA343679652 rs1439247206 RCV000812884 |
90 | A>V | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000059362 rs137854507 CA145213 VAR_065007 |
93 | D>E | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 CGD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
| VAR_065008 | 96 | E>del | CGD2 [UniProt] | Yes | UniProt |
|
RCV001326426 rs755222977 CA1285009 |
97 | A>G | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA115430 RCV000002332 rs119103276 |
100 | Q>* | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs119103276 RCV000913787 CA1285006 |
100 | Q>E | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000002329 rs374402066 CA212789 |
102 | R>* | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Variant assessed as Somatic; 9.24e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs137854515 CA145215 RCV000059363 VAR_065009 |
102 | R>P | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Variant assessed as Somatic; impact. CGD2 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs137854515 RCV001320606 CA1285003 |
102 | R>Q | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001046167 rs1672856679 |
107 | I>V | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_065010 RCV001559780 RCV000059364 rs137854509 CA145217 |
108 | D>V | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 CGD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000553435 rs1553258487 CA343678763 |
120 | A>V | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001229779 rs773422870 CA1284979 |
125 | Y>H | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000002334 CA115433 rs119103274 VAR_017389 |
128 | A>V | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 CGD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1672715788 RCV001343568 |
132 | A>V | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000002327 rs796065030 |
134 | K>missing | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_065011 CA145219 rs137854516 RCV000059365 |
137 | W>R | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 CGD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1672714323 RCV001052405 |
138 | K>R | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000059366 rs137854520 CA145221 VAR_065012 |
140 | A>D | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 CGD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000277633 CA1284970 rs764142541 |
148 | T>M | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_017390 | 160 | D>EV | CGD2 [UniProt] | Yes | UniProt |
|
CA026876 RCV000002328 rs267606912 |
160 | D>V | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558098982 RCV000690026 |
161 | K>missing | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137878529 RCV000002328 CA026895 |
161 | K>E | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA1284965 RCV001061781 rs752127520 |
162 | A>T | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA145223 VAR_065013 RCV000059367 rs137854517 |
169 | Q>E | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 CGD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001651127 rs2274064 VAR_018477 RCV000388595 CA1284929 RCV000243467 |
181 | K>R | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002535792 CA1284927 RCV000788837 rs766745748 |
184 | R>* | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_065014 RCV000059368 rs137854518 CA145225 |
184 | R>P | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 CGD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs115365142 RCV000766500 RCV001088101 CA1284926 RCV000437670 |
188 | R>K | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_065015 | 196 | K>del | CGD2 [UniProt] | Yes | UniProt |
|
VAR_065016 RCV000059369 rs137854508 CA145227 |
202 | A>V | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 CGD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000818292 CA1284861 rs144451516 |
231 | P>L | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000366527 rs764405660 CA1284858 |
236 | I>T | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1672351576 RCV002543145 RCV001305941 |
247 | V>L | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000697840 CA343672386 rs1558094825 |
271 | K>R | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1672345384 RCV001209157 |
273 | G>missing | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001308611 rs754118806 CA1284799 |
274 | N>S | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001865445 rs1064794299 RCV000482820 |
279 | T>missing | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs13306581 VAR_034129 RCV001844158 RCV001720014 CA1284797 RCV000964238 |
279 | T>M | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001338930 rs1672329290 |
290 | P>L | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs35937854 VAR_034130 CA1284767 RCV000317093 RCV000545841 |
297 | V>A | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs768029053 CA1284766 RCV001339633 |
300 | R>W | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000702612 rs777621636 |
302 | H>missing | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA343705099 rs1572153511 RCV000811696 |
312 | S>P | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1284738 rs137937390 RCV000974550 |
313 | P>L | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs138860204 RCV001222631 CA1284726 |
327 | G>R | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001238045 rs755689355 CA1284713 |
340 | E>K | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001324158 RCV002545145 rs571460195 CA1284689 |
351 | P>L | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs748489095 CA1284688 RCV001101084 |
352 | Y>C | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001857969 RCV000521067 CA1284687 rs765400770 |
357 | H>Y | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA1284684 RCV000526618 RCV001532089 RCV002282216 rs147744729 |
361 | T>S | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886045656 CA10608452 RCV000270890 |
362 | V>I | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA219764 rs137854513 VAR_065017 RCV001854241 CA343704591 RCV000059356 |
369 | G>R | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar UniProt dbSNP |
|
rs1572151178 CA343704557 RCV000816923 RCV001561611 |
374 | Q>* | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001306789 CA1284675 COSM3400085 rs777251055 |
376 | R>W | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000973778 CA1284671 rs147908264 RCV001709577 |
386 | R>Q | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001217928 rs201325416 CA1284670 |
389 | H>N | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs17849502 CA1284668 CA343704460 RCV000539056 RCV000253292 VAR_052620 RCV001668429 |
389 | H>Q | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD ClinVar |
|
rs796065031 RCV000002330 RCV001582461 |
391 | K>missing | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs13306575 RCV001212887 CA1284646 |
395 | R>G | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000526980 CA1284645 RCV001701989 rs145229115 |
395 | R>Q | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs13306575 RCV000597800 VAR_008905 CA115437 RCV001650826 RCV000002336 |
395 | R>W | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 impairs interaction with NCF4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs145970396 RCV003222255 RCV001206552 COSM1295585 CA1284643 |
397 | R>W | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Variant assessed as Somatic; 0.0 impact. urinary_tract [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000300260 CA10608512 rs886045655 |
416 | Q>R | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1284632 rs35012521 VAR_052621 RCV000539456 RCV001705405 RCV000309636 RCV001258235 |
419 | N>I | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Developmental and epileptic encephalopathy, 28 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001069925 rs1672149399 |
423 | T>S | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000814529 rs1472146831 |
440 | K>* | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000688043 COSM1659615 CA1284609 rs759940920 |
441 | E>K | kidney Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Variant assessed as Somatic; 0.0001848 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000335234 rs886045653 CA10609009 |
446 | D>Y | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1284603 RCV000551931 RCV000598123 rs55761650 RCV001668644 |
454 | P>S | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001298404 CA34019796 rs142633260 |
455 | Q>R | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1671979597 RCV001100830 |
459 | G>R | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10608997 rs886045652 RCV000401057 |
462 | V>G | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA343703551 CA343703550 rs1191336717 RCV000798179 RCV000804222 |
481 | G>R | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001297327 CA34019747 rs896210830 |
487 | L>S | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001202132 rs1671770625 |
499 | C>missing | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886045651 RCV000352650 CA10608450 |
500 | K>E | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001323454 rs1572142355 |
503 | V>A | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs937597401 CA34017983 RCV000700972 |
505 | I>T | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000533046 CA34017977 rs897063287 |
508 | K>R | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001313089 rs1467304073 CA343703317 |
514 | C>R | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA1284570 COSM1337030 RCV000794910 rs369006606 |
515 | A>T | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA34017957 RCV001507505 RCV000806699 rs1038329001 |
516 | T>A | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA1284569 RCV000642283 rs143901397 |
518 | D>H | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001267776 CA1284565 rs139108402 |
523 | R>Q | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000642279 rs768748386 CA343703166 |
527 | V>Y | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA33993127 rs987968831 |
2 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA343685434 rs1572181770 |
4 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 5 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343685375 rs1404705904 |
6 | A>G | No |
ClinGen gnomAD |
|
|
CA343685359 rs1572181746 |
7 | I>T | No |
ClinGen Ensembl |
|
|
rs1558109278 CA343685366 |
7 | I>V | No |
ClinGen Ensembl |
|
|
rs368880633 CA33993109 |
8 | S>I | No |
ClinGen ESP TOPMed |
|
|
CA343685283 rs1391299879 |
9 | L>F | No |
ClinGen gnomAD |
|
|
CA343685276 rs1213412723 |
9 | L>P | No |
ClinGen TOPMed |
|
|
CA343685259 rs1261814657 |
10 | W>S | No |
ClinGen gnomAD |
|
|
rs1572181710 CA343685228 |
11 | N>D | No |
ClinGen Ensembl |
|
|
rs763816212 CA1285072 |
14 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA343685145 rs1379367905 |
15 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 16 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1285069 rs201589700 |
17 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1285070 rs201589700 |
17 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA33993071 rs969698184 |
18 | D>E | No |
ClinGen TOPMed |
|
|
rs773175637 CA1285067 |
21 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1285066 rs767533151 |
23 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761962182 CA1285065 |
25 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1413816919 CA343684835 |
27 | D>G | No |
ClinGen gnomAD |
|
|
rs544745512 CA1285063 |
30 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1477543413 CA343684754 |
31 | A>T | No |
ClinGen TOPMed |
|
|
rs745752489 CA1285059 |
34 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 34 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368781381 CA343684641 |
35 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368781381 CA1285058 |
35 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 36 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 36 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA33992982 rs979104686 |
40 | C>G | No |
ClinGen Ensembl |
|
|
CA1285054 rs752384353 |
52 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA33992939 rs898012170 |
58 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1285037 rs545984071 |
59 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1285036 rs545984071 |
59 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1317264911 CA343683509 |
63 | S>R | No |
ClinGen gnomAD |
|
|
CA343683478 rs1558107073 |
64 | I>L | No |
ClinGen Ensembl |
|
|
rs111532709 CA33991515 |
65 | N>D | No |
ClinGen Ensembl |
|
|
rs142803799 CA1285031 |
66 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1448318570 CA343683345 |
69 | H>L | No |
ClinGen gnomAD |
|
|
CA343683347 rs1448318570 |
69 | H>R | No |
ClinGen gnomAD |
|
|
CA33991486 rs895330372 |
70 | L>S | No |
ClinGen Ensembl |
|
|
CA343683288 rs1328721147 |
72 | V>A | No |
ClinGen gnomAD |
|
|
rs763140210 CA1285027 |
74 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs763140210 CA343683245 |
74 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA1285026 COSM208847 rs752901695 |
77 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1558107011 CA343683138 |
78 | G>R | No |
ClinGen Ensembl |
|
|
rs770674754 CA1285024 |
79 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1285025 rs137854512 |
79 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343683104 rs1412099566 |
79 | M>T | No |
ClinGen gnomAD |
|
|
rs137854512 RCV000059361 VAR_065006 CA219767 |
79 | M>V | No |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs1345007682 CA343683084 |
80 | L>F | No |
ClinGen TOPMed |
|
|
CA343683035 rs143178891 |
81 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1285021 rs779088549 |
84 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1457361434 CA343682924 |
85 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA33985410 rs999877155 |
87 | Y>* | No |
ClinGen Ensembl |
|
|
CA33985411 rs940390623 |
87 | Y>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 90 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558101170 CA343679644 |
91 | I>V | No |
ClinGen Ensembl |
|
|
CA343679610 rs1178973806 |
92 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 93 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1222090455 CA343679547 |
95 | K>Q | No |
ClinGen gnomAD |
|
|
CA1285010 rs765461476 |
95 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558101108 CA343679476 |
97 | A>P | No |
ClinGen Ensembl |
|
|
rs754041676 CA1285008 |
98 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343679387 rs1229246306 |
99 | I>M | No |
ClinGen TOPMed |
|
|
rs766146068 CA1285007 |
99 | I>T | No |
ClinGen ExAC |
|
|
rs773131016 CA343679356 |
100 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343679384 rs119103276 |
100 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1285004 rs137854515 |
102 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748898061 CA1285001 |
103 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs768193963 CA1285002 |
103 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157170264 CA343679267 |
104 | N>H | No |
ClinGen gnomAD |
|
|
CA33985361 rs749367579 |
108 | D>N | No |
ClinGen gnomAD |
|
|
CA1284999 rs771262057 |
111 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1284998 rs200286542 |
113 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 114 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 115 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343678845 rs1490800202 |
118 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 119 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343678658 rs1182112229 |
122 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 123 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1284978 rs772598020 |
125 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs773422870 CA343677971 |
125 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs918129446 CA33983322 |
126 | N>Y | No |
ClinGen TOPMed |
|
|
rs779573048 CA1284976 |
130 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA343677900 rs1467029816 |
131 | Y>D | No |
ClinGen TOPMed |
|
|
CA343677872 rs1185083741 |
133 | K>T | No |
ClinGen gnomAD |
|
|
rs1422911188 COSM226479 CA343677854 |
135 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs749319711 CA1284974 |
136 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA343677826 rs1353925383 |
137 | W>* | No |
ClinGen TOPMed |
|
|
CA343677831 rs137854516 |
137 | W>G | No |
ClinGen gnomAD |
|
|
rs780235098 CA1284973 CA343677796 |
139 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 140 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs137854520 CA343677789 |
140 | A>V | No |
ClinGen gnomAD |
|
|
rs1276695376 CA343677750 |
143 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 145 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750697066 CA343677713 |
146 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA33983169 rs764142541 |
148 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340153036 CA343677637 COSM75573 |
150 | M>V | ovary Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1284967 rs533500800 |
153 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343677095 rs1330695554 |
155 | R>K | No |
ClinGen gnomAD |
|
|
CA33983111 rs878920790 |
157 | S>F | No |
ClinGen Ensembl |
|
|
rs1410487604 CA343677059 |
157 | S>T | No |
ClinGen gnomAD |
|
|
CA33983104 rs919688297 |
160 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA343676946 rs137878529 |
161 | K>Q | No |
ClinGen TOPMed |
|
|
CA1284964 rs376994104 |
162 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA33983038 rs868076974 |
163 | M>I | No |
ClinGen Ensembl |
|
|
rs1437356891 CA343676883 |
163 | M>L | No |
ClinGen gnomAD |
|
|
CA1284962 rs372773130 |
163 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762270172 CA1284960 |
165 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs774918809 CA1284959 |
166 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 167 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1284936 rs769704327 |
170 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA33981899 rs868128180 |
170 | K>N | No |
ClinGen Ensembl |
|
|
CA1284932 rs747272727 |
174 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA343676235 rs2274064 |
181 | K>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343676236 rs2274064 |
181 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1017216292 CA33981839 |
186 | N>D | No |
ClinGen TOPMed |
|
|
CA343676109 rs1487503950 |
188 | R>G | No |
ClinGen gnomAD |
|
|
CA203008 rs755796920 RCV000178769 |
189 | Q>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs755796920 CA1284925 |
189 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA1284924 rs750131635 |
189 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
rs1448893985 CA343675995 |
191 | A>S | No |
ClinGen gnomAD |
|
|
rs1448893985 CA343675991 COSM1216808 |
191 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1284923 rs764314608 |
192 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs554848021 CA343675838 CA33981815 |
196 | K>N | No |
ClinGen TOPMed |
|
|
rs763388019 CA1284921 |
199 | L>I | No |
ClinGen ExAC gnomAD |
|
| rs147657171 | 203 | T>= | Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765762727 CA1284920 |
203 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM414264 rs760085363 CA1284919 |
203 | T>M | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs772322729 | 204 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1284895 rs761985515 |
205 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774160536 CA1284894 |
206 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1284892 rs749187972 |
210 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs768602664 CA1284893 |
210 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA343674922 rs1480292323 |
214 | F>V | No |
ClinGen gnomAD |
|
|
rs140028944 CA1284888 |
221 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343674749 rs1246275293 |
222 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 223 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1462920489 CA343673650 |
224 | A>T | No |
ClinGen TOPMed |
|
|
CA1284865 rs754192116 |
225 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA33978643 rs893464438 |
226 | E>K | No |
ClinGen Ensembl |
|
|
rs780442146 CA1284864 |
228 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1431395639 CA343673440 |
229 | P>S | No |
ClinGen gnomAD |
|
|
CA1284863 rs756610730 |
230 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs750922183 CA1284862 |
231 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1284859 rs150595188 |
235 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753556861 CA1284817 |
239 | A>G | No |
ClinGen ExAC TOPMed |
|
|
rs753556861 CA343672955 |
239 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA343672944 rs1455199776 |
240 | L>P | No |
ClinGen TOPMed |
|
|
rs988863738 CA33976882 |
241 | E>G | No |
ClinGen Ensembl |
|
|
CA1284815 rs760561718 |
242 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs879287555 CA33976848 |
243 | E>D | No |
ClinGen TOPMed |
|
|
CA1284814 rs750380443 |
245 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761315970 CA1284812 |
246 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343672836 rs761315970 |
246 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768181039 COSM900826 CA1284810 |
246 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs768181039 CA1284811 |
246 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA33976793 rs993917599 |
248 | L>R | No |
ClinGen TOPMed |
|
|
CA33976781 rs1000185935 |
253 | P>S | No |
ClinGen gnomAD |
|
|
CA1284806 rs747462402 |
262 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs772775720 CA1284804 |
266 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1410652028 CA343672416 |
269 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1284803 rs748228594 |
269 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA343672406 rs1486174110 |
270 | L>W | No |
ClinGen TOPMed |
|
|
CA343672356 rs1383634520 |
273 | G>D | No |
ClinGen gnomAD |
|
|
rs539632630 CA1284800 |
274 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1284798 rs13306581 |
279 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1269970535 CA343672273 |
280 | V>A | No |
ClinGen gnomAD |
|
|
CA343672171 rs767437169 |
283 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA33976724 rs761796267 |
284 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761796267 CA1284794 |
284 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343672134 rs1205752530 |
285 | Q>H | No |
ClinGen gnomAD |
|
|
rs1178747743 CA343671926 |
287 | G>R | No |
ClinGen gnomAD |
|
|
CA1284771 rs757931282 |
292 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA343671745 rs1451496762 |
293 | Y>D | No |
ClinGen gnomAD |
|
|
CA343671705 rs1275640147 |
295 | E>Q | No |
ClinGen TOPMed |
|
|
CA1284768 rs549428558 |
296 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1284769 rs549428558 |
296 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762173491 CA1284765 |
300 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA33976412 rs771296779 |
301 | I>T | No |
ClinGen Ensembl |
|
|
rs1215987231 CA343671512 |
301 | I>V | No |
ClinGen gnomAD |
|
|
CA343671498 rs1356778202 |
302 | H>Y | No |
ClinGen gnomAD |
|
|
CA1284763 rs774932046 |
304 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs768549092 CA1284762 |
305 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs775489066 CA1284760 |
308 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs868713492 CA34022586 |
315 | S>F | No |
ClinGen Ensembl |
|
|
CA34022596 rs556255666 |
315 | S>P | No |
ClinGen gnomAD |
|
|
rs1356577608 CA343705059 |
316 | D>G | No |
ClinGen TOPMed |
|
|
CA1284734 COSM71794 rs778521448 |
316 | D>N | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA343705033 rs1211226964 |
319 | A>T | No |
ClinGen TOPMed |
|
|
rs755778188 CA1284731 |
320 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755778188 CA1284730 |
320 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1284729 rs751928437 |
321 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA34022556 rs751928437 |
321 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs764404690 CA1284728 |
322 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3803150 CA343704974 rs1217254414 |
325 | A>D | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs369515038 CA1284727 |
326 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA219770 RCV000059370 VAR_018478 rs137854511 |
328 | R>K | No |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
|
CA343704948 rs1572153401 |
328 | R>S | No |
ClinGen Ensembl |
|
|
rs1287236365 CA343704942 |
329 | P>L | No |
ClinGen gnomAD |
|
|
rs765235671 CA1284725 |
329 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1161284292 CA343704902 |
333 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 333 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558093746 CA343704906 |
333 | P>S | No |
ClinGen Ensembl |
|
|
rs1405222204 CA343704832 |
335 | Q>L | No |
ClinGen gnomAD |
|
| TCGA novel | 339 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176950911 CA343704805 |
339 | E>K | No |
ClinGen gnomAD |
|
|
CA343704804 rs1176950911 |
339 | E>Q | No |
ClinGen gnomAD |
|
|
rs1282929083 CA343704792 |
340 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 343 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209130595 CA343704754 |
344 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 346 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1161197894 CA343704739 |
346 | L>P | No |
ClinGen gnomAD |
|
|
rs745458881 CA1284691 |
349 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780702980 CA1284690 |
351 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA343704679 rs1248900075 |
355 | K>N | No |
ClinGen gnomAD |
|
|
rs755434573 CA1284686 |
358 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA34021372 rs890662812 |
361 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs560823166 CA1284682 |
363 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1284681 rs767622954 |
368 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs941229841 CA34021341 |
372 | Y>H | No |
ClinGen TOPMed |
|
|
rs769837205 CA1284676 |
374 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs369205421 CA34021329 |
376 | R>Q | No |
ClinGen gnomAD |
|
|
CA1284674 rs776252831 |
378 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA343704523 rs1181613195 |
379 | V>A | No |
ClinGen gnomAD |
|
|
CA1284673 rs770537584 |
384 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1558092475 CA343704485 |
385 | L>I | No |
ClinGen Ensembl |
|
|
rs746692621 CA1284672 |
386 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1349405769 CA343704472 |
388 | E>K | No |
ClinGen TOPMed |
|
|
rs1348532113 CA343704458 |
390 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
COSM1320657 CA343704444 rs1320994851 |
392 | L>V | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs756705355 CA1284666 |
393 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA343704417 rs1558092329 |
394 | Y>C | No |
ClinGen Ensembl |
|
|
rs749606885 CA1284649 |
394 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145229115 CA343704414 |
395 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371503781 CA1284644 |
396 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA34021126 rs370251291 |
397 | R>Q | No |
ClinGen ESP gnomAD |
|
|
rs1177978189 CA343704393 |
399 | S>N | No |
ClinGen gnomAD |
|
|
CA1284640 rs765110090 |
401 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 403 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001172221 rs1672151930 |
406 | S>missing | No |
ClinVar dbSNP |
|
|
rs753825493 CA1284638 |
407 | E>K | No |
ClinGen ExAC |
|
|
rs765806399 CA1284637 |
408 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs760169471 CA1284635 |
412 | D>E | No |
ClinGen ExAC |
|
|
rs377591562 CA1284634 |
414 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 415 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1244040870 CA343704258 |
418 | K>N | No |
ClinGen TOPMed |
|
|
CA343704212 rs1360130502 |
425 | W>C | No |
ClinGen gnomAD |
|
|
rs373876135 CA1284630 |
425 | W>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1284629 rs775679393 |
427 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs745334269 CA1284628 |
428 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386187898 CA343704185 |
429 | T>K | No |
ClinGen TOPMed |
|
|
CA1284611 rs774068321 |
432 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs765454120 CA1284610 |
434 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA34019828 rs534011480 |
439 | P>R | No |
ClinGen gnomAD |
|
|
rs1363824720 CA343703873 |
439 | P>T | No |
ClinGen gnomAD |
|
|
CA34019827 rs979540396 |
440 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs759940920 CA34019812 |
441 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343703851 rs1415859903 |
441 | E>G | No |
ClinGen gnomAD |
|
|
CA343703821 rs1252205438 |
444 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 445 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1284607 rs771532464 |
447 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs747548282 CA1284606 |
447 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1284605 rs141569987 |
448 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772204296 CA1284604 |
453 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs55761650 CA343703740 |
454 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779188117 CA1284602 |
456 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343703727 rs779188117 |
456 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1284601 rs755209791 |
458 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA343703701 rs1172488239 |
460 | S>G | No |
ClinGen TOPMed |
|
|
rs1411946850 CA343703699 |
460 | S>N | No |
ClinGen gnomAD |
|
|
CA343703686 rs1343852866 |
462 | V>M | No |
ClinGen gnomAD |
|
|
CA343703675 rs1293077582 |
463 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 464 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343703652 rs1437278244 |
467 | S>G | No |
ClinGen gnomAD |
|
|
rs1156859129 CA343703641 |
468 | Y>C | No |
ClinGen gnomAD |
|
|
CA343703632 rs1572146985 |
469 | E>D | No |
ClinGen Ensembl |
|
|
CA1284598 rs756008519 |
469 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756797744 CA1284595 |
475 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343703562 rs1451425447 |
479 | Q>H | No |
ClinGen gnomAD |
|
|
rs1191336717 CA343703552 |
481 | G>W | No |
ClinGen gnomAD |
|
|
rs751096649 CA1284594 |
482 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1284592 rs762733492 |
486 | V>A | No |
ClinGen ExAC |
|
|
rs1255725153 CA343703435 |
496 | E>G | No |
ClinGen gnomAD |
|
|
CA343703438 rs1482490757 |
496 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA343703439 rs1482490757 |
496 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1284579 rs749546475 |
497 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1572142387 CA343703416 |
499 | C>G | No |
ClinGen Ensembl |
|
|
rs755918616 CA1284577 |
499 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1284576 rs745740745 |
501 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343703386 rs1572142355 |
503 | V>G | No |
ClinGen Ensembl |
|
|
rs1401259720 CA343703358 |
508 | K>E | No |
ClinGen gnomAD |
|
|
CA10588272 rs886039749 RCV000255379 |
508 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs376920441 CA34017974 |
511 | V>I | No |
ClinGen ESP |
|
|
rs1558088125 CA343703325 |
513 | D>N | No |
ClinGen Ensembl |
|
|
rs183100144 CA1284572 |
514 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1391418738 CA343703305 |
515 | A>V | No |
ClinGen gnomAD |
|
|
rs534490818 CA1284568 |
518 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs374667798 CA1284567 |
521 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1284566 rs139108402 |
523 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343703219 rs1484391507 |
523 | R>W | No |
ClinGen gnomAD |
|
|
rs1291053440 CA343703213 |
524 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA343703184 rs762269733 |
526 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1284563 rs762269733 |
526 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with P19878
[MIM: 233710]: Granulomatous disease, chronic, autosomal recessive, 2 (CGD2)
A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. {ECO:0000269|PubMed:10498624, ECO:0000269|PubMed:10598813, ECO:0000269|PubMed:11112388, ECO:0000269|PubMed:16937026, ECO:0000269|PubMed:18625437, ECO:0000269|PubMed:19624736, ECO:0000269|PubMed:20167518, ECO:0000269|PubMed:23910690, ECO:0000269|PubMed:8286749, ECO:0000269|PubMed:9070911}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. {ECO:0000269|PubMed:10498624, ECO:0000269|PubMed:10598813, ECO:0000269|PubMed:11112388, ECO:0000269|PubMed:16937026, ECO:0000269|PubMed:18625437, ECO:0000269|PubMed:19624736, ECO:0000269|PubMed:20167518, ECO:0000269|PubMed:23910690, ECO:0000269|PubMed:8286749, ECO:0000269|PubMed:9070911}. Note=The disease is caused by variants affecting the gene represented in this entry.
9 regional properties for P19878
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PB1 domain | 351 - 429 | IPR000270 |
| domain | SH3 domain | 240 - 299 | IPR001452-1 |
| domain | SH3 domain | 457 - 516 | IPR001452-2 |
| repeat | Tetratricopeptide repeat | 37 - 70 | IPR019734-1 |
| repeat | Tetratricopeptide repeat | 71 - 104 | IPR019734-2 |
| repeat | Tetratricopeptide repeat | 121 - 154 | IPR019734-3 |
| domain | Neutrophil cytosol factor 2, PB1 domain | 351 - 429 | IPR034885 |
| domain | Neutrophil cytosol factor 2, SH3 domain | 461 - 513 | IPR034889 |
| domain | Neutrophil cytosol factor 2, SH3 domain 1 | 244 - 297 | IPR035546 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| acrosomal vesicle | A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| NADPH oxidase complex | A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2. |
| phagolysosome | A membrane-bounded intracellular vesicle formed by maturation of an early phagosome following the ingestion of particulate material by phagocytosis; during maturation, phagosomes acquire markers of late endosomes and lysosomes. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| electron transfer activity | Any molecular entity that serves as an electron acceptor and electron donor in an electron transport chain. An electron transport chain is a process in which a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient. |
| protein C-terminus binding | Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| small GTPase binding | Binding to a small monomeric GTPase. |
| superoxide-generating NAD(P)H oxidase activity | Catalysis of the reaction: NAD(P)H + O2 = NAD(P)H + O2-. |
| superoxide-generating NADPH oxidase activator activity | Increases the activity of the enzyme superoxide-generating NADPH oxidase. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular defense response | A defense response that is mediated by cells. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| phagocytosis | A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. |
| respiratory burst | A phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. |
| superoxide anion generation | The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways. |
| superoxide metabolic process | The chemical reactions and pathways involving superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O77775 | NCF2 | Neutrophil cytosol factor 2 | Bos taurus (Bovine) | PR |
| Q5HYK7 | SH3D19 | SH3 domain-containing protein 19 | Homo sapiens (Human) | PR |
| Q6XZF7 | DNMBP | Dynamin-binding protein | Homo sapiens (Human) | PR |
| Q86UR1 | NOXA1 | NADPH oxidase activator 1 | Homo sapiens (Human) | EV |
| Q8CJ00 | Noxa1 | NADPH oxidase activator 1 | Mus musculus (Mouse) | SS |
| O70145 | Ncf2 | Neutrophil cytosol factor 2 | Mus musculus (Mouse) | PR |
| A7E3N7 | Noxa1 | NADPH oxidase activator 1 | Rattus norvegicus (Rat) | SS |
| A7E3N2 | Ncf2 | Neutrophil cytosol factor 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSLVEAISLW | NEGVLAADKK | DWKGALDAFS | AVQDPHSRIC | FNIGCMYTIL | KNMTEAEKAF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TRSINRDKHL | AVAYFQRGML | YYQTEKYDLA | IKDLKEALIQ | LRGNQLIDYK | ILGLQFKLFA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CEVLYNIAFM | YAKKEEWKKA | EEQLALATSM | KSEPRHSKID | KAMECVWKQK | LYEPVVIPVG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KLFRPNERQV | AQLAKKDYLG | KATVVASVVD | QDSFSGFAPL | QPQAAEPPPR | PKTPEIFRAL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EGEAHRVLFG | FVPETKEELQ | VMPGNIVFVL | KKGNDNWATV | MFNGQKGLVP | CNYLEPVELR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IHPQQQPQEE | SSPQSDIPAP | PSSKAPGRPQ | LSPGQKQKEE | PKEVKLSVPM | PYTLKVHYKY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TVVMKTQPGL | PYSQVRDMVS | KKLELRLEHT | KLSYRPRDSN | ELVPLSEDSM | KDAWGQVKNY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CLTLWCENTV | GDQGFPDEPK | ESEKADANNQ | TTEPQLKKGS | QVEALFSYEA | TQPEDLEFQE |
| 490 | 500 | 510 | 520 | ||
| GDIILVLSKV | NEEWLEGECK | GKVGIFPKVF | VEDCATTDLE | STRREV |