MTR Chromosome 1

5-methyltetrahydrofolate-homocysteine methyltransferase
125 variants 125 Health Risk

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What This Gene Does
This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
Gene Info
Gene Group
"Homocysteine domain containing methyltransferases|Small molecule methyltransferases"
Locus Type
gene with protein product
Location
1q43
Ensembl
ENSG00000116984
Associated Conditions (17)
Disorders of Intracellular Cobalamin Metabolism
Methylcobalamin deficiency type cblG
MTR-related disorder
Neural tube defects
folate-sensitive
Intellectual disability
Gastric cancer
Malignant tumor of esophagus
Familial cancer of breast
Inborn genetic diseases
See cases
Homocystinuria
Decreased methionine synthase activity
Melanoma
Thymoma
Profound intellectual disability
Epilepsy
Key Variants
RS116836001
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, MTR-related disorder
Health Risk
RS121913582
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblG, Neural tube defects, folate-sensitive
Health Risk
RS1242741686
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
Health Risk
RS12749581
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism, Intellectual disability
Health Risk
RS1413989228
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
Health Risk
RS141861479
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
Health Risk
RS141919148
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
Health Risk
RS142648132
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, MTR-related disorder
Health Risk
RS142857114
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
Health Risk
RS144767461
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, MTR-related disorder
Health Risk
RS144777709
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, MTR-related disorder
Health Risk
RS144991102
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism, Inborn genetic diseases
Health Risk
All Variants (125)
RSID Category Clinical Significance Conditions
RS116836001 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, MTR-related disorder
RS121913582 Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Neural tube defects, folate-sensitive
RS1242741686 Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS12749581 Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism, Intellectual disability
RS1413989228 Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS141861479 Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS141919148 Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS142648132 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, MTR-related disorder
RS142857114 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
RS144767461 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, MTR-related disorder
RS144777709 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, MTR-related disorder
RS144991102 Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism, Inborn genetic diseases
RS147410975 Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS147762307 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
RS148897041 Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Inborn genetic diseases, Methylcobalamin deficiency type cblG
RS150058137 Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, See cases, Methylcobalamin deficiency type cblG
RS200479834 Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Neural tube defects, folate-sensitive
RS201647375 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
RS201901663 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, See cases, Methylcobalamin deficiency type cblG
RS2147939390 Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Inborn genetic diseases, Methylcobalamin deficiency type cblG
RS368755647 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, MTR-related disorder
RS370004550 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
RS376679817 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
RS377357761 Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, MTR-related disorder, Methylcobalamin deficiency type cblG
RS529430607 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, MTR-related disorder
RS557853306 Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Inborn genetic diseases, Methylcobalamin deficiency type cblG
RS61736440 Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Neural tube defects, folate-sensitive
RS750824195 Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS750838511 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
RS759636736 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
RS760793648 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
RS763018049 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
RS769066955 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
RS774910076 Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS775291294 Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Inborn genetic diseases, Methylcobalamin deficiency type cblG
RS778549407 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
RS886046217 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
RS886046221 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
RS980038551 Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
RS1064796330 Health Risk Likely pathogenic —
RS1190777785 Health Risk Likely pathogenic Homocystinuria, Decreased methionine synthase activity, Homocystinuria
RS1224783275 Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1269957639 Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1359827243 Health Risk Likely pathogenic MTR-related disorder, MTR-related disorder
RS1367402633 Health Risk Likely pathogenic —
RS1400658126 Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Neural tube defects, folate-sensitive
RS145939391 Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1558334603 Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1572218599 Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1662641467 Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
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