C45* (p.Cys45Ter) variant of PHF6 (PHD finger protein 6)

C45* (p.Cys45Ter) in PHF6 (PHD finger protein 6) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact in the context of in BFLS. The record also includes structural context.

C45* (p.Cys45Ter) variant details