rs767494411

This variant is located in the CFH gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters2 publications

not provided; Basal laminar drusen;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Factor H deficiency;Age related macular degeneration 4

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About CFH

This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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