rs776763356
This variant is located in the CYBA gene.
▶ClinVar annotation
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative; Chronic granulomatous disease; Inborn genetic diseases
View on ClinVar →About CYBA
Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]
View all CYBA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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