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LOVD MLH1 homepage

General information
Gene name MutL homolog 1, ex-UVs
Gene symbol MLH1
Chromosome Location 3p22.3
Database location Tavtigian lab - Huntsman Cancer Institute
Curator Bryony Thompson
PubMed references View all (unique) PubMed references in the MLH1 database
Date of creation February 03, 2012
Last update September 24, 2015
Version MLH1 150924
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Genomic refseq ID NC_000003.11
Transcript refseq ID NM_000249.3
Total number of unique DNA variants reported 164
Total number of individuals with variant(s) 164
Total number of variants reported 164
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the MLH1 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the MLH1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the MLH1 database
Variants with no known pathogenicity Listing of all MLH1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the MLH1 database in tab-delimited text format.

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 7127
Entrez Gene 4292
OMIM - Gene 120436
OMIM - Disease #1 Colorectal Cancer, Hereditary Nonpolyposis, Type 2 (HNPCC2)
OMIM - Disease #2 Mismatch Repair Cancer Syndrome
OMIM - Disease #3 Muir-Torre Syndrome (MTS)
OMIM - Disease #4 MutL, E. Coli, Homolog Of, 1 (MLH1)
OMIM - Disease #5 Cafe-au-lait Spots, Multiple
UniProtKB (SwissProt/TrEMBL) P40692

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