E30C (p.Glu30Cys) variant of MSH6 (DNA mismatch repair protein Msh6)
E30C (p.Glu30Cys) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E30C (p.Glu30Cys) variant details
- p.Glu30Cys
- rs2530316357
- ClinGen CA2580066974
- ClinVar RCV002373717
- Pathogenic
- Missense
- 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)