RYR1 variant details of c.1589G>A p.(Arg530His)
| genomic | c.1589G>A |
| protein | p.(Arg530His) |
| exon | 15 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1 PP3_Mod |
| genomic | c.1589G>A |
| protein | p.(Arg530His) |
| exon | 15 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1 PP3_Mod |