K13* (p.Lys13Ter) variant of MSH6 (DNA mismatch repair protein Msh6)
K13* (p.Lys13Ter) 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.
K13* (p.Lys13Ter) variant details
- p.Lys13Ter
- rs942019524
- ClinGen CA346734527
- ClinVar RCV002002526
- ClinVar RCV003453856
- Pathogenic
- Stop Gained
- EBI: Pathogenic (in dbSNP:rs41294988)
- UniProt: Pathogenic (in dbSNP:rs41294988)
- 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)