Y8* (p.Tyr8Ter) variant of MSH6 (DNA mismatch repair protein Msh6)
Y8* (p.Tyr8Ter) 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.
Y8* (p.Tyr8Ter) variant details
- p.Tyr8Ter
- rs746306598
- ClinGen CA346734503
- ClinVar RCV000825599
- ClinVar RCV002427080
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)