rs768405501

This variant is located in the FANCB gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters2 publications

Fanconi anemia; Fanconi anemia complementation group B

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About FANCB

This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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