R9* (p.Arg9Ter) variant of MLH1 (DNA mismatch repair protein Mlh1)

Name: MLH1 R9* (p.Arg9Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-05-15
License: https://catvariant.com/terms-of-use

R9* (p.Arg9Ter) 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.

R9* (p.Arg9Ter) variant details

p.Arg9Ter
rs869312767
ClinGen CA357820
ClinVar RCV000210198
ClinVar RCV000820368
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)