FTCD

formimidoyltransferase cyclodeaminase

Summary

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]

Known Variants264 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88605717321:47,556,298G/A—uncertain significance
rs1277421:47,556,793T/C—benign
rs55521699321:47,556,821G/C—likely benign
rs7962208921:47,556,882A/G—benign
rs20121266221:47,556,894C/T—uncertain significance
rs14477362221:47,556,900G/A—uncertain significance
rs75699444421:47,556,912G/A—uncertain significance
rs13862020821:47,556,913G/A—likely benign
rs207888261321:47,556,919C/T—likely benign
rs14926690921:47,556,920A/Tstop gainedpathogenic
rs19069727921:47,556,936G/T—uncertain significance
rs138166195321:47,556,937T/C—likely benign
rs75903138621:47,556,938G/A—uncertain significance
rs72750393821:47,556,944T/G—uncertain significance
rs77752320021:47,556,950T/C—uncertain significance
rs251704193621:47,556,953G/A—uncertain significance
rs160128685521:47,556,964G/A—likely benign
rs76494490721:47,556,977C/T—uncertain significance
rs118835206521:47,556,978G/A—uncertain significance
rs144728692621:47,556,982G/A—likely benign
rs14797315021:47,556,984G/A—uncertain significance
rs36975444921:47,556,987T/C—conflicting classifications of pathogenicity
rs74850099121:47,556,993G/A—likely benign
rs20000057321:47,557,137C/A—likely benign
rs37608109221:47,557,170C/T—uncertain significance
rs14158281421:47,557,171G/C—uncertain significance
rs74733407021:47,557,178A/G—uncertain significance
rs77421010421:47,557,194T/C—uncertain significance
rs36854066521:47,557,195G/A—likely benign
rs77179909621:47,557,200C/T—uncertain significance
rs148944250421:47,557,208T/A—uncertain significance
rs39812423321:47,557,212C/T—uncertain significance
rs75755117221:47,557,227T/A—uncertain significance
rs251704306521:47,557,230C/T—uncertain significance
rs14560904321:47,557,244G/A—conflicting classifications of pathogenicity
rs75767423521:47,557,267G/C—likely benign
rs76796929921:47,558,410G/A—likely benign
rs53909579521:47,558,435C/T—uncertain significance
rs55695210521:47,558,436G/A—uncertain significance
rs6173583921:47,558,456C/T—likely benign
rs19980719421:47,558,457G/A—uncertain significance
rs104717921:47,558,473G/C—benign
rs18837742421:47,558,474G/A—uncertain significance
rs57687765221:47,558,476C/T—likely benign
rs78125584521:47,558,482C/A—likely benign
rs75031266621:47,558,485C/T—likely benign
rs75598653621:47,558,486G/A—uncertain significance
rs54425328121:47,558,494C/T—likely benign
rs6173584021:47,558,501G/A—uncertain significance
rs37657276321:47,558,502C/T—uncertain significance
rs20028373421:47,558,507G/Amissense variantuncertain significance
rs76384532121:47,558,512C/T—likely benign
rs37684516021:47,558,513G/A—uncertain significance
rs7902151021:47,558,528C/T—benign
rs20196666821:47,558,529G/A—uncertain significance
rs37736340221:47,558,548G/A—likely benign
rs77775053721:47,558,551C/T—likely benign
rs6173584121:47,558,552A/G—benign
rs116267267921:47,558,553C/T—uncertain significance
rs141395697621:47,558,554C/T—likely benign
rs37347193321:47,558,558C/T—uncertain significance
rs76715640421:47,558,575A/G—likely benign
rs76016977921:47,558,577G/A—likely benign
rs75671029121:47,558,774G/A—likely benign
rs18155454421:47,558,778G/A—likely benign
rs56681452321:47,558,796G/A—likely benign
rs75514896521:47,558,804C/T—uncertain significance
rs76972820221:47,558,805C/G—uncertain significance
rs14085517421:47,558,811T/G—benign
rs75534094121:47,558,825G/A—uncertain significance
rs251704737121:47,558,838C/T—likely pathogenic
rs212348379321:47,558,845A/G—likely benign
rs37248475921:47,558,850G/C—benign
rs207893381721:47,558,855A/T—likely benign
rs76089201621:47,558,856A/C—likely benign
rs481920421:47,559,747C/Aintron variant—
rs37366771121:47,565,322G/A—likely benign
rs251706447821:47,565,336A/T—uncertain significance
rs14979296321:47,565,339C/T—uncertain significance
rs75187896621:47,565,357C/T—uncertain significance
rs14892015821:47,565,371G/T—likely benign
rs37675446721:47,565,385C/T—likely benign
rs77316636921:47,565,386G/A—uncertain significance
rs55328250021:47,565,393C/T—likely benign
rs207911860621:47,565,397G/A—likely benign
rs20182865221:47,565,423T/C—likely benign
rs54521402921:47,565,425G/C—uncertain significance
rs75749659721:47,565,446C/T—uncertain significance
rs76612160421:47,565,453C/T—uncertain significance
rs37698663921:47,565,469C/T—likely benign
rs103300152521:47,565,488G/A—uncertain significance
rs134460120021:47,565,712G/T—likely benign
rs106049985921:47,565,717T/C—likely benign
rs129065549021:47,565,733A/G—uncertain significance
rs123940632421:47,565,739G/C—uncertain significance
rs128036653321:47,565,751G/A—uncertain significance
rs148531657821:47,565,752C/T—uncertain significance
rs160132590821:47,565,754A/C—uncertain significance
rs207913418721:47,565,763C/A—uncertain significance
rs56081161921:47,565,775G/A—uncertain significance

Showing 100 of 264 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.