MLH3 Chromosome 14

MutL homolog 3
135 variants 135 Health Risk

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What This Gene Does
This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
MutL homologs
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000119684
Associated Conditions (19)
Colorectal cancer
hereditary nonpolyposis
type 7
Ovarian cancer
MLH3-related disorder
Endometrial carcinoma
Premature ovarian failure
Lynch syndrome
Hereditary cancer
Endometrial cancer
non-polyposis
Thymoma
Gastric cancer
Carcinoma of colon
Malignant tumor of breast
Lynch syndrome 1
Neoplasm
Clear cell carcinoma of kidney
Melanoma
Key Variants
RS1009026527
Conflicting classifications of pathogenicity
Colorectal cancer, hereditary nonpolyposis, type 7
Health Risk
RS1016240480
Conflicting classifications of pathogenicity
Colorectal cancer, hereditary nonpolyposis, type 7
Health Risk
RS1016685208
Conflicting classifications of pathogenicity
Colorectal cancer, hereditary nonpolyposis, type 7
Health Risk
RS1039843487
Conflicting classifications of pathogenicity
Colorectal cancer, hereditary nonpolyposis, type 7
Health Risk
RS113490514
Conflicting classifications of pathogenicity
Colorectal cancer, hereditary nonpolyposis, type 7
Health Risk
RS116526686
Conflicting classifications of pathogenicity
Colorectal cancer, hereditary nonpolyposis, type 7
Health Risk
RS1212794587
Conflicting classifications of pathogenicity
Colorectal cancer, hereditary nonpolyposis, type 7
Health Risk
RS1243847782
Conflicting classifications of pathogenicity
Health Risk
RS1255282773
Conflicting classifications of pathogenicity
Colorectal cancer, hereditary nonpolyposis, type 7
Health Risk
RS1280419101
Conflicting classifications of pathogenicity
Colorectal cancer, hereditary nonpolyposis, type 7
Health Risk
RS1363518429
Conflicting classifications of pathogenicity
Colorectal cancer, hereditary nonpolyposis, type 7
Health Risk
RS138974583
Conflicting classifications of pathogenicity
Colorectal cancer, hereditary nonpolyposis, type 7
Health Risk
All Variants (135)
RSID Category Clinical Significance Conditions
RS2139568919 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS2503132072 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS2503179006 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS2503195040 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS2503268787 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS28756977 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS28756978 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS28756979 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS28756984 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS28756987 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS28756989 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS28756990 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS28757011 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS28757027 Health Risk Conflicting classifications of pathogenicity —
RS28939071 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS369273391 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS370383198 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS370951929 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS372089146 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS372835460 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS372912259 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS375623365 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS376981545 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS377337763 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, non-polyposis, hereditary nonpolyposis
RS41555714 Health Risk Conflicting classifications of pathogenicity Endometrial carcinoma, Colorectal cancer, hereditary nonpolyposis
RS544782025 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS55725216 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS565238806 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS566653064 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS587776622 Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Colorectal cancer, hereditary nonpolyposis
RS61752721 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS61752722 Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Colorectal cancer, hereditary nonpolyposis
RS61754769 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS61755653 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS745389962 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS745639930 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS745657036 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS746155226 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS746171271 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS746725349 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS751375245 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS751465048 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS752741447 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS754824568 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS755961343 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS756720838 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS756756799 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS758226404 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS760305520 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS761221683 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
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