rs119103272
This is a stop gained variant in the NCF1 gene.
▶ClinVar annotation
Pathogenic
1 submitter1 publicationGranulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
View on ClinVar →About NCF1
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]
View all NCF1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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