A23D (p.Ala23Asp) variant of MSH6 (DNA mismatch repair protein Msh6)
A23D (p.Ala23Asp) 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 Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The record also includes published literature and structural context.
A23D (p.Ala23Asp) variant details
- p.Ala23Asp
- rs1060502912
- ClinGen CA346734780
- ClinVar RCV002257129
- ClinVar RCV003759087
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- 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)