The MLH1 gene homepage

MLH1 variants classified by the InSiGHT consortium: criteria used for classification are available here. We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.
General information
Gene symbol MLH1
Gene name mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
Chromosome 3
Chromosomal band p22.3
Imprinted Not imprinted
Genomic reference LRG_216
Transcript reference NM_000249.3
Exon/intron information NM_000249.3 exon/intron table
Associated with diseases HNPCC, HNPCC1 (Lynch), HNPCC2, MMRCS, MRTES, Adenoma sebaceum
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) InSiGHT - John-Paul Plazzer, Bryony A Thompson, and Mev Dominguez Valentin
Total number of public variants reported 10600
Unique public DNA variants reported 1884
Individuals with public variants 8679
Hidden variants 47
Notes this is one of the InSiGHT gene variant databases.
We sincerely thank the George Hicks Foundation for their generous support of the curation of the InSiGHT database from 2010 to 2012. We are grateful for the ongoing funding for curation which is provided by the Royal Melbourne Hospital foundation.
NOTE: this database was initiated by merging entries from the MMR, InSiGHT and MMRUV databases (for links see the gene homepage). We want to gratefully acknowledge Amanda Dohey (Woods laboratory) to get this work done. We also want to thank Krista Mahoney (until 2011) and Johan den Dunnen (until 2018) for helping to curate the database.
Date created January 01, 2008
Date last updated December 07, 2023
Version MLH1:231207

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000249.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Woods MMR databases
MMRUV Groningen
HGNC 7127
Entrez Gene 4292
PubMed articles MLH1
OMIM - Gene 120436
OMIM - Diseases HNPCC1 (Lynch) (cancer, colorectal, nonpolyposis, hereditary, type 1 (HNPCC-1, Lynch syndrome))
HNPCC2 (cancer, colorectal, nonpolyposis, hereditary, type 2 (HNPCC-2))
MMRCS (cancer syndrome, mismatch repair (MMRCS))
MRTES (Muir-Torre syndrome (MRTES))
GeneCards MLH1
GeneTests MLH1
Orphanet MLH1

Active transcripts




NCBI ID     

NCBI Protein ID     

00013676 3 transcript variant 1 NM_000249.3 NP_000240.1 10600

Copyright & disclaimer
All contents of this database are protected by local and international copyright laws. The information is submitted for the purpose of sharing genetic and clinical information. Genetic variants listed may or may not have a causal association with disease phenotypes, irrespective of stated classifications or other information presented in the database. All information in this database, including variant classifications, is subject to change and there is no warranty, express or implied, as to its accuracy, completeness, or fitness for a particular purpose. Use of this database and information is subject to User responsibility and discretion. Clinical decisions regarding individual patient care should be carried out in conjunction with a healthcare professional with expertise in the relevant genes and diseases. We do not accept any liability for any injury, loss or damage incurred by use of or reliance on the information provided by this database. Database submitters are required to adhere to their institution's rules for data sharing, and local and national laws. Personal identifiers should not be submitted. Submitters retain the rights to use and edit their data. Database curators may curate data to ensure that database formatting and quality standards are met. They may also share their submitted data with external parties for research purposes or for sharing with other databases. Use of the data is for clinical diagnostic purposes. Use for research requires permission from the curator in conjunction with submitters' approval. InSiGHT expects that use of the data for commercial operations should be accompanied by payment commensurate to this use.