Approved symbol | P3H1 |
---|---|
Approved name | prolyl 3-hydroxylase 1 |
HGCN ID | HGNC:19316 |
Previous symbols | LEPRE1 |
Inheritance | |
OMIM | 610339 |
Chromosome | 1p34.2 |
Panel(s) |
NGS Mendelioom NGS Osteogenesis imperfecta en gerelateerde aandoeningen NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Skeletdysplasie |