W3C (p.Trp3Cys) variant of GJB1 (Gap junction beta-1 protein)

W3C (p.Trp3Cys) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in CMTX1. The record also includes structural context.

W3C (p.Trp3Cys) variant details