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Gene entry

MTHFR

methylenetetrahydrofolate reductase

Chromosome
1
Cytoband
1p36.22
Variants (rsID)
22

MTHFR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.22). Its official name is “methylenetetrahydrofolate reductase”. The reference table lists 22 variants (rsID) for this gene.

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Clinically classified variants

11 reference-table entries with clinical significance.

  • rs2274976Benignsingle nucleotide variantHomocystinuria due to MTHFR deficiency|Homocystinuria due to methylene tetrahydrofolate reductase deficiency
  • rs35737219Benignsingle nucleotide variantHomocystinuria due to methylene tetrahydrofolate reductase deficiency|Homocystinuria due to MTHFR deficiency
  • rs4846051Benignsingle nucleotide variantHomocystinuria due to MTHFR deficiency|Homocystinuria due to methylene tetrahydrofolate reductase deficiency
  • rs121434296Conflicting interpretationssingle nucleotide variantHomocystinuria due to MTHFR deficiency|Homocystinuria due to methylene tetrahydrofolate reductase deficiency
  • rs1801131Conflicting interpretationssingle nucleotide variantMTHFR THERMOLABILE POLYMORPHISM|Schizophrenia, susceptibility to|Gastrointestinal stromal tumor|Neural tube defects, folate-sensitive|Homocystinuria due to methylene tetrahydrofolate reductase deficiency|Homocystinuria due to MTHFR deficiency|Stroke
  • rs543016186Conflicting interpretationssingle nucleotide variantHomocystinuria due to methylene tetrahydrofolate reductase deficiency
  • rs1801133Drug responsesingle nucleotide variantMTHFR THERMOLABILE POLYMORPHISM|Gastrointestinal stromal tumor|Neural tube defects, folate-sensitive|Neoplasm of stomach|Thrombophilia due to thrombin defect|Homocystinuria due to methylene tetrahydrofolate reductase deficiency|Homocystinuria due to MTHFR deficiency|methotrexate response - Metabolism/PK|Stroke|methotrexate response - Toxicity
  • rs138189536Likely benignsingle nucleotide variantHomocystinuria due to methylene tetrahydrofolate reductase deficiency
  • rs200137991Likely pathogenicsingle nucleotide variantHomocystinuria due to methylene tetrahydrofolate reductase deficiency|Homocystinuria due to MTHFR deficiency
  • rs121434295Pathogenicsingle nucleotide variantHomocystinuria due to MTHFR deficiency|Homocystinuria due to methylene tetrahydrofolate reductase deficiency
  • rs121434297Pathogenicsingle nucleotide variantHomocystinuria due to MTHFR deficiency

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.