S18* (p.Ser18Ter) variant of CLCN1 (Chloride channel protein 1)

S18* (p.Ser18Ter) in CLCN1 (Chloride channel protein 1) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

S18* (p.Ser18Ter) variant details