rs2488079654

This variant is located in the VPS13B gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Cohen syndrome

About VPS13B

This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

View all VPS13B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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