rs572292225

This variant is located in the MTHFR gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

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About MTHFR

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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