rs200283734

This is a variant in the FTCD gene that changes a threonine to an methionine.

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ClinVar annotation

Uncertain Significance★★★☆
7 submitters3 publications

Glutamate formiminotransferase deficiency; Inborn genetic diseases; Intellectual disability

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About FTCD

The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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