MLH1 gene homepage

General information
Gene symbol MLH1
Gene name mutL homolog 1
Chromosome 3
Chromosomal band p22.2
Imprinted Unknown
Genomic reference LRG_216
Transcript reference NM_000249.3, NM_001167617.1, NM_001167618.1, NM_001167619.1, NM_001258271.1, NM_001258273.1, NM_001258274.1
Associated with diseases HNPCC2, MMRCS, MRTES
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 894
Unique public DNA variants reported 142
Individuals with public variants 739
Hidden variants 0
Date created May 20, 2020
Date last updated October 07, 2020
Version MLH1:201007

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 7127
Entrez Gene 4292
PubMed articles MLH1
OMIM - Gene 120436
OMIM - Diseases HNPCC2 (Colorectal cancer, hereditary nonpolyposis, type 2)
MMRCS (Mismatch repair cancer syndrome)
MRTES (Muir-Torre syndrome)


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000118 3 colon cancer, nonpolyposis type 2 (E. coli), transcript variant 1 NM_000249.3 NP_000240.1 894
00000119 3 colon cancer, nonpolyposis type 2 (E. coli), transcript variant 2 NM_001167617.1 NP_001161089.1 891
00000120 3 colon cancer, nonpolyposis type 2 (E. coli), transcript variant 3 NM_001167618.1 NP_001161090.1 891
00000121 3 colon cancer, nonpolyposis type 2 (E. coli), transcript variant 4 NM_001167619.1 NP_001161091.1 891
00000122 3 colon cancer, nonpolyposis type 2 (E. coli), transcript variant 5 NM_001258271.1 NP_001245200.1 891
00000123 3 colon cancer, nonpolyposis type 2 (E. coli), transcript variant 6 NM_001258273.1 NP_001245202.1 891
00000124 3 colon cancer, nonpolyposis type 2 (E. coli), transcript variant 7 NM_001258274.1 NP_001245203.1 891


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