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Genetic and Rare Diseases Information Center (GARD)

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MTHFR gene mutation


* Not a rare disease
Other Names for this Disease
  • Methylenetetrahydrofolate reductase mutation
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Your Questions Answered

2 question(s) from the public on this disease have been answered. Submit a new question.
  • I just found out I also have a MTHFR homozygous A1298C mutation. (the C677T mutation was NOT detected.) What does the combination of these two mutations mean for treatment and further testing recommendations? Click here for answer

  • I have recently been diagnosed with the C677T heterozygous gene mutation. What I would most like to know is: does this mutation have any bearing or is it something I do not need to concern myself with?  Click here for answer