| Approved symbol | PCYT1A |
|---|---|
| Approved name | phosphate cytidylyltransferase 1A, choline |
| HGCN ID | HGNC:8754 |
| Previous symbols | PCYT1 |
| Inheritance | |
| OMIM | 123695 |
| Chromosome | 3q29 |
| Panel(s) |
NGS Cone-rod dystrophie en macula degeneratie NGS Leber congenital amaurosis LCA NGS Mendelioom NGS Metabole aandoeningen NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Retinitis pigmentosa NGS Skeletdysplasie NGS Visus pakket Retinale genen |
