rs119103273

This is a variant in the NCF1 gene that changes a glycine to an serine.

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ClinVar annotation

Pathogenic
1 submitter2 publications

Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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