MLH3 Chromosome 14

MutL homolog 3
135 variants 135 Health Risk

Upload your DNA to see your personal genotypes for variants in MLH3.

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
RS1009026527 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS1016240480 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS1016685208 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS1039843487 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS113490514 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS116526686 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS1212794587 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS1243847782 Health Risk Conflicting classifications of pathogenicity —
RS1255282773 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS1280419101 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS1363518429 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS138974583 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS139265757 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS139821565 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS142124529 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Colorectal cancer, hereditary nonpolyposis
RS142179277 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS1424702720 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS1431264077 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS143316827 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS1433367660 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS143865811 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS1442447298 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS144707485 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS145627040 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS1458734302 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS146166860 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS147021156 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS148095325 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS148409389 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS1566607594 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS181990057 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS186838169 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS187392462 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS1892298729 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS1892325359 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS1892331030 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Endometrial carcinoma, hereditary nonpolyposis
RS1892333159 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS1892346320 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS190537801 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS191623874 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS193219754 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS200093225 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS201303087 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS201389281 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS201931206 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS201936675 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS2139388180 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS2139413400 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS2139495087 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
RS2139555775 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis, type 7
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