Q21* (p.Gln21Ter) variant of MSH3 (DNA mismatch repair protein Msh3)
Q21* (p.Gln21Ter) in MSH3 (DNA mismatch repair protein Msh3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q21* (p.Gln21Ter) variant details
- p.Gln21Ter
- rs2546709890
- ClinGen CA360265167
- ClinVar RCV003459134
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available