NCF1
neutrophil cytosolic factor 1
Summary
The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs377305075 | 7:74,191,610 | C/A | — | uncertain significance |
| rs146173318 | 7:74,191,648 | G/A | — | uncertain significance |
| rs782800778 | 7:74,191,664 | C/T | — | pathogenic |
| rs119103270 | 7:74,191,665 | G/A | missense variant | pathogenic |
| rs707410 | 7:74,191,707 | C/T | — | benign |
| rs377662255 | 7:74,191,729 | C/T | — | benign |
| rs1332688726 | 7:74,191,766 | G/C | — | benign |
| rs2527379 | 7:74,191,800 | C/T | — | benign |
| rs142050799 | 7:74,191,913 | C/T | — | likely benign |
| rs782242537 | 7:74,193,481 | C/T | — | likely benign |
| rs1160867604 | 7:74,193,494 | C/T | — | uncertain significance |
| rs139225348 | 7:74,193,620 | G/A | — | benign |
| rs781789430 | 7:74,193,635 | G/A | — | uncertain significance |
| rs201802880 | 7:74,193,642 | G/A | missense variant | pathogenic |
| rs119103271 | 7:74,193,644 | C/T | stop gained | pathogenic |
| rs144018361 | 7:74,193,665 | T/G | — | conflicting classifications of pathogenicity |
| rs10614 | 7:74,193,668 | G/A | — | benign |
| rs1260148269 | 7:74,193,677 | A/G | — | uncertain significance |
| rs119103272 | 7:74,193,706 | T/A | stop gained | pathogenic |
| rs17356100 | 7:74,193,718 | C/T | — | benign |
| rs782074398 | 7:74,193,760 | G/A | — | likely benign |
| rs199789198 | 7:74,196,185 | C/A | — | — |
| rs800980 | 7:74,196,244 | C/T | — | — |
| rs782555266 | 7:74,197,326 | A/G | — | likely benign |
| rs782037135 | 7:74,197,342 | C/T | — | uncertain significance |
| rs782759739 | 7:74,197,356 | G/T | — | uncertain significance |
| rs1295715643 | 7:74,197,401 | A/T | — | uncertain significance |
| rs119103273 | 7:74,197,404 | G/A | missense variant | pathogenic |
| rs1796616678 | 7:74,197,862 | G/A | — | uncertain significance |
| rs145360423 | 7:74,197,872 | G/A | stop gained | pathogenic |
| rs879968738 | 7:74,197,914 | G/A | — | likely benign |
| rs782219576 | 7:74,197,980 | C/T | — | uncertain significance |
| rs13739 | 7:74,202,920 | C/T | — | likely benign |
| rs587594457 | 7:74,202,933 | C/T | — | likely benign |
| rs1796717166 | 7:74,202,952 | C/T | — | uncertain significance |
| rs1554414935 | 7:74,203,016 | G/T | — | uncertain significance |
| rs2535743393 | 7:74,203,031 | G/A | — | uncertain significance |
| rs782200934 | 7:74,203,042 | C/G | — | uncertain significance |
| rs2535743424 | 7:74,203,045 | C/T | — | uncertain significance |
| rs782656910 | 7:74,203,047 | C/G | — | likely benign |
| rs707374 | 7:74,203,084 | G/G | — | benign |
| rs1057519503 | 7:74,203,683 | G/A | — | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.