Y8C (p.Tyr8Cys) variant of MSH6 (DNA mismatch repair protein Msh6)
Y8C (p.Tyr8Cys) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
Y8C (p.Tyr8Cys) variant details
- p.Tyr8Cys
- rs1572697757
- ClinGen CA346734500
- ClinVar RCV000811278
- ClinVar RCV001015409
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)