| Approved symbol | NPC1 |
|---|---|
| Approved name | NPC intracellular cholesterol transporter 1 |
| HGCN ID | HGNC:7897 |
| Previous symbols | |
| Inheritance | |
| OMIM | 607623 |
| Chromosome | 18q11.2 |
| Panel(s) |
NGS Bewegingsstoornissen NGS Dementie NGS Intellectual disability NGS Interstitiële longziekten ILD NGS Mendelioom NGS Metabole aandoeningen NGS Preconceptiepanel NGS Preconceptiepanel (t.b.v. consanguine paren) NPC1 Analysis |
