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
RS762453215 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS763372977 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS763408801 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS764724825 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS765493144 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS766819210 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS767413852 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS767782578 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS769209737 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS770167451 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS770819541 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS772010423 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS772314175 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS774449341 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS774817891 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS775001669 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS775277584 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Colorectal cancer, hereditary nonpolyposis
RS775972214 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS776639203 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS77687901 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS777308221 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS781394261 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS78311619 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS879779919 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS894904610 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS902755970 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS927878214 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS954634089 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS975447813 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS2503211315 Health Risk Likely pathogenic —
RS2503260477 Health Risk Likely pathogenic Endometrial carcinoma, Endometrial carcinoma
RS2503299745 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis, type 7
RS2503307220 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis, type 7
RS2503336726 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis, type 7
RS797045117 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis, type 7
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