Q26* (p.Gln26Ter) variant of SMAD3 (SMAD family member 3)
Q26* (p.Gln26Ter) in SMAD3 (SMAD family member 3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
Q26* (p.Gln26Ter) variant details
- p.Gln26Ter
- Ensembl rs2140188856
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available