K13Q (p.Lys13Gln) variant of MSH6 (DNA mismatch repair protein Msh6)
K13Q (p.Lys13Gln) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K13Q (p.Lys13Gln) variant details
- p.Lys13Gln
- rs942019524
- ClinGen CA46687657
- ClinVar RCV001179054
- ClinVar RCV001192424
- Pathogenic
- Missense
- EBI: Pathogenic (in dbSNP:rs41294988)
- UniProt: Pathogenic (in dbSNP:rs41294988)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)