A23G (p.Ala23Gly) variant of MSH6 (DNA mismatch repair protein Msh6)
A23G (p.Ala23Gly) 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.
A23G (p.Ala23Gly) variant details
- p.Ala23Gly
- rs1060502912
- ClinGen CA16610864
- ClinVar RCV002230412
- ClinVar RCV002374796
- 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)