E110* (p.Glu110Ter) variant of SLC19A3 (Thiamine transporter 2)

E110* (p.Glu110Ter) in SLC19A3 (Thiamine transporter 2) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

E110* (p.Glu110Ter) variant details