FTCD Chromosome 21
Formimidoyltransferase cyclodeaminase
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What This Gene Does
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]
Associated Conditions (5)
Glutamate formiminotransferase deficiency
Inborn genetic diseases
Intellectual disability
FTCD-related disorder
Sarcoma
Key Variants
RS145609043
Conflicting classifications of pathogenicity
Glutamate formiminotransferase deficiency, Inborn genetic diseases, Glutamate formiminotransferase deficiency
Health Risk
RS200283734
Conflicting classifications of pathogenicity
Glutamate formiminotransferase deficiency, Intellectual disability, Inborn genetic diseases
Health Risk
RS369754449
Conflicting classifications of pathogenicity
Intellectual disability, Glutamate formiminotransferase deficiency, Inborn genetic diseases
Health Risk
RS374097903
Conflicting classifications of pathogenicity
Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency
Health Risk
RS376603123
Conflicting classifications of pathogenicity
Glutamate formiminotransferase deficiency, Inborn genetic diseases, Glutamate formiminotransferase deficiency
Health Risk
RS377359525
Conflicting classifications of pathogenicity
Glutamate formiminotransferase deficiency, Intellectual disability, Inborn genetic diseases
Health Risk
RS777099958
Conflicting classifications of pathogenicity
Glutamate formiminotransferase deficiency, Inborn genetic diseases, Glutamate formiminotransferase deficiency
Health Risk
RS1355632505
Likely pathogenic
FTCD-related disorder, Sarcoma, FTCD-related disorder
Health Risk
RS2079131229
Likely pathogenic
Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency
Health Risk
RS2517047371
Likely pathogenic
Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency
Health Risk
RS775788856
Likely pathogenic
Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency
Health Risk
RS776381858
Likely pathogenic
Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145609043 | Health Risk | Conflicting classifications of pathogenicity | Glutamate formiminotransferase deficiency, Inborn genetic diseases, Glutamate formiminotransferase deficiency |
| RS200283734 | Health Risk | Conflicting classifications of pathogenicity | Glutamate formiminotransferase deficiency, Intellectual disability, Inborn genetic diseases |
| RS369754449 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Glutamate formiminotransferase deficiency, Inborn genetic diseases |
| RS374097903 | Health Risk | Conflicting classifications of pathogenicity | Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency |
| RS376603123 | Health Risk | Conflicting classifications of pathogenicity | Glutamate formiminotransferase deficiency, Inborn genetic diseases, Glutamate formiminotransferase deficiency |
| RS377359525 | Health Risk | Conflicting classifications of pathogenicity | Glutamate formiminotransferase deficiency, Intellectual disability, Inborn genetic diseases |
| RS777099958 | Health Risk | Conflicting classifications of pathogenicity | Glutamate formiminotransferase deficiency, Inborn genetic diseases, Glutamate formiminotransferase deficiency |
| RS1355632505 | Health Risk | Likely pathogenic | FTCD-related disorder, Sarcoma, FTCD-related disorder |
| RS2079131229 | Health Risk | Likely pathogenic | Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency |
| RS2517047371 | Health Risk | Likely pathogenic | Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency |
| RS775788856 | Health Risk | Likely pathogenic | Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency |
| RS776381858 | Health Risk | Likely pathogenic | Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency |
| RS140217223 | Health Risk | Pathogenic | Glutamate formiminotransferase deficiency, Inborn genetic diseases, Glutamate formiminotransferase deficiency |
| RS374724805 | Health Risk | Pathogenic | Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency |
| RS1310075515 | Health Risk | Pathogenic/Likely pathogenic | Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency |
| RS149266909 | Health Risk | Pathogenic/Likely pathogenic | Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency |
| RS398124234 | Health Risk | Pathogenic/Likely pathogenic | Glutamate formiminotransferase deficiency, Inborn genetic diseases, FTCD-related disorder |
| RS777286639 | Health Risk | Pathogenic/Likely pathogenic | Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency |
| RS8133955 | Health Risk | Pathogenic/Likely pathogenic | Glutamate formiminotransferase deficiency, FTCD-related disorder, Glutamate formiminotransferase deficiency |