Approved symbol | RYR1 |
---|---|
Approved name | ryanodine receptor 1 |
HGCN ID | HGNC:10483 |
Previous symbols | MHS, MHS1, CCO |
Inheritance | |
OMIM | 180901 |
Chromosome | 19q13.2 |
Panel(s) |
NGS Arthrogrypose NGS Foetale akinesie-deformatiesequentie FADS NGS Mendelioom NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Spieraandoeningen |