R3G (p.Arg3Gly) variant of MSH6 (DNA mismatch repair protein Msh6)
R3G (p.Arg3Gly) 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 not provided; Hereditary nonpolyposis colorectal neoplasms. The record also includes published literature and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- rs1553408074
- ClinGen CA346734469
- ClinVar RCV000629922
- ClinVar RCV006552539
- Uncertain significance
- not provided; Hereditary nonpolyposis colorectal neoplasms
- Missense
- ClinVar: Uncertain significance (not provided; Hereditary nonpolyposis colorectal neoplasms)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)