Ornithine Carbamoyltransferase Deficiency(Ornithine transcarbamylase deficiency) Explore Disorder's Alias
An X-linked dominant mode(s) within the Metabolic disorders category
Candidate Gene Information
An X-linked dominant mode(s) within the Metabolic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | OTC/5009 | ornithine transcarbamylase | Xp11.4 | ChrX, NC_000023.11 (38327684..38422928) |
95245 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |