rs760991073

This variant is located in the CYBA gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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