rs771379232

This variant is located in the MTHFS gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆
2 submitters2 publications

Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination

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About MTHFS

The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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