rs140855174
This variant is located in the FTCD gene.
▶ClinVar annotation
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]
View all FTCD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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