G31A (p.Gly31Ala) variant of MSH6 (DNA mismatch repair protein Msh6)
G31A (p.Gly31Ala) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Endometrial carcinoma. The record also includes published literature and structural context.
G31A (p.Gly31Ala) variant details
- p.Gly31Ala
- rs2530316591
- ClinGen CA346734823
- ClinVar RCV003461935
- Uncertain significance
- Endometrial carcinoma
- Missense
- ClinVar: Uncertain significance (Endometrial carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)