R3* (p.Arg3Ter) variant of MSH6 (DNA mismatch repair protein Msh6)
R3* (p.Arg3Ter) in MSH6 (DNA mismatch repair protein Msh6) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R3* (p.Arg3Ter) variant details
- p.Arg3Ter
- rs1558644683
- ClinGen CA891843157
- ClinVar RCV000694103
- ClinVar RCV003453456
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)