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
RS786204034 Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS868113829 Health Risk Likely pathogenic Neural tube defects, folate-sensitive, Neural tube defects
RS928393582 Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS1057519362 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1057519363 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS121434294 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Abnormality of metabolism/homeostasis, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1263501260 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1314085200 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1334349459 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS147750177 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1557759023 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1570473609 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1570475998 Health Risk Pathogenic Neural tube defects, folate-sensitive, Neural tube defects
RS1644092513 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS1644212098 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS1644227125 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1644227167 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1644230120 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS1644354028 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1644375837 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1644381879 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS1644429362 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS200137991 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS2100494177 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100495241 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS2100499107 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100499494 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100507511 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100523280 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100527601 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100527918 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100566841 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100577466 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522818191 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522854600 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522857207 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522875756 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522881802 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522882449 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522883183 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522884710 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522894898 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522961067 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522979795 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522982515 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS267606886 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS375254845 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS377443637 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects, folate-sensitive
RS747668376 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS756018487 Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
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