Approved symbol | CPS1 |
---|---|
Approved name | carbamoyl-phosphate synthase 1 |
HGCN ID | HGNC:2323 |
Previous symbols | |
Inheritance | |
OMIM | 608307 |
Chromosome | 2q34 |
Panel(s) |
NGS Epilepsie NGS Intellectual disability NGS Mendelioom NGS Metabole aandoeningen NGS Preconceptiepanel (t.b.v. consanguine paren) |