MLH1 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

MLH1 (mutL homolog 1)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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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

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
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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