D12* (p.Asp12Ter) variant of MLH1 (DNA mismatch repair protein Mlh1)
D12* (p.Asp12Ter) in MLH1 (DNA mismatch repair protein Mlh1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
D12* (p.Asp12Ter) variant details
- p.Asp12Ter
- rs2470599366
- ClinGen CA2580069384
- ClinVar RCV002452070
- Pathogenic
- Stop Gained
- 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)