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 Mendeliome NGS Osteogenesis imperfecta and related disorders NGS Preconception panel (for consanguineous couples) NGS Skeletal Dysplasia |