R27* (p.Arg27Ter) variant of SMAD4 (SMAD family member 4)
R27* (p.Arg27Ter) in SMAD4 (SMAD family member 4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R27* (p.Arg27Ter) variant details
- p.Arg27Ter
- Ensembl rs2144400756
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available