RYR1 variant details of c.7360C>T p.(Arg2454Cys)
| genomic | c.7360C>T |
| protein | p.(Arg2454Cys) |
| exon | 46 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1_Sup PM5 PP1 PP3_Mod |
| genomic | c.7360C>T |
| protein | p.(Arg2454Cys) |
| exon | 46 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1_Sup PM5 PP1 PP3_Mod |