RYR1 variant details of c.1565A>C p.(Tyr522Ser)
| genomic | c.1565A>C |
| protein | p.(Tyr522Ser) |
| exon | 14 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3 PS4_Sup PM1 PP1 PP3_Mod |
| genomic | c.1565A>C |
| protein | p.(Tyr522Ser) |
| exon | 14 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3 PS4_Sup PM1 PP1 PP3_Mod |