R61* (p.Arg61Ter) variant of TBX5 (T-box transcription factor TBX5)

R61* (p.Arg61Ter) in TBX5 (T-box transcription factor TBX5) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

R61* (p.Arg61Ter) variant details