RYR1 variant details of c.1565A>G p.(Tyr522Cys)
| genomic | c.1565A>G |
| protein | p.(Tyr522Cys) |
| exon | 14 |
| EMHG classification | Likely Pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1_Sup PM5 PP3_Mod |
| genomic | c.1565A>G |
| protein | p.(Tyr522Cys) |
| exon | 14 |
| EMHG classification | Likely Pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1_Sup PM5 PP3_Mod |