MTHFR Chromosome 1

Methylenetetrahydrofolate reductase
202 variants 1 Drug Response 201 Health Risk

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What This Gene Does
The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
1p36.22
Ensembl
ENSG00000177000
Associated Conditions (27)
MTHFR THERMOLABILE POLYMORPHISM
Gastrointestinal stromal tumor
Neural tube defects
folate-sensitive
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
methotrexate response - Toxicity
Thrombophilia due to thrombin defect
See cases
Schizophrenia
Inborn genetic diseases
MTHFR-related disorder
Intellectual disability
Global developmental delay
Lower limb spasticity
Bilateral tonic-clonic seizure
Mental deterioration
Delayed speech and language development
Clear cell carcinoma of kidney
Generalized cerebral atrophy/hypoplasia
Familial cancer of breast
+7 more conditions
Key Variants
RS1801133
drug response
MTHFR THERMOLABILE POLYMORPHISM, Gastrointestinal stromal tumor, Neural tube defects
Drug Response
RS1056919085
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
Health Risk
RS1057519360
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
Health Risk
RS115049252
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Inborn genetic diseases, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Health Risk
RS121434296
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
Health Risk
RS138189536
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Health Risk
RS139645527
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
Health Risk
RS142612062
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
Health Risk
RS142617551
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
Health Risk
RS143428827
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Inborn genetic diseases, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Health Risk
RS144594875
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Health Risk
RS144921426
Conflicting classifications of pathogenicity
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Inborn genetic diseases, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Health Risk
Related Biomarkers (2)
Folate monitor strong
Vitamin B12 supports interpretation moderate
Related Supplements (3)
Methylfolate (5-MTHF) may support strong
RS1801133
MTHFR C677T — methylfolate bypasses reduced enzyme activity
Riboflavin (B2) may support moderate
RS1801133
MTHFR C677T — riboflavin stabilises the MTHFR enzyme
Vitamin B12 (methylcobalamin) may support moderate
RS1801133
MTHFR C677T — supports methylation cycle
All Variants (202)
RSID Category Clinical Significance Conditions
RS1801133 Drug Response drug response MTHFR THERMOLABILE POLYMORPHISM, Gastrointestinal stromal tumor, Neural tube defects
RS1056919085 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS1057519360 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS115049252 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Inborn genetic diseases, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS121434296 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS138189536 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS139645527 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS142612062 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS142617551 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS143428827 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Inborn genetic diseases, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS144594875 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS144921426 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Inborn genetic diseases, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS145641996 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, MTHFR-related disorder, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS149514973 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, MTHFR-related disorder, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS150847674 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1553187352 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1553188013 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS200100285 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Schizophrenia
RS202153689 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS2066464 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, MTHFR-related disorder, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS34279942 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Inborn genetic diseases, MTHFR-related disorder
RS371085894 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS372258648 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Inborn genetic diseases, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS373076763 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS376927238 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS45449298 Health Risk Conflicting classifications of pathogenicity Neural tube defects, folate-sensitive, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS543016186 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Thrombophilia due to thrombin defect, Neural tube defects
RS747182653 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS748289202 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS764650203 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Lower limb spasticity, Bilateral tonic-clonic seizure
RS769381688 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS769953411 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS773360881 Health Risk Conflicting classifications of pathogenicity Neural tube defects, folate-sensitive, Thrombophilia due to thrombin defect
RS774694621 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Inborn genetic diseases, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS776195746 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS786204028 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS79157191 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, MTHFR-related disorder, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS886043349 Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS1057519359 Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS1057519361 Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1234860680 Health Risk Likely pathogenic Neural tube defects, folate-sensitive, Neural tube defects
RS1262817124 Health Risk Likely pathogenic Neural tube defects, folate-sensitive, Neural tube defects
RS1380686004 Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS147257424 Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS1476689323 Health Risk Likely pathogenic —
RS1553185069 Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1553185497 Health Risk Likely pathogenic —
RS1553187509 Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1557761665 Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1644256586 Health Risk Likely pathogenic Generalized cerebral atrophy/hypoplasia, Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Generalized cerebral atrophy/hypoplasia
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