RYR1 variant details of c.1201C>T p.(Arg401Cys)
| genomic | c.1201C>T |
| protein | p.(Arg401Cys) |
| exon | 12 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1_Sup PM5 PP1 PP3_Mod |
| genomic | c.1201C>T |
| protein | p.(Arg401Cys) |
| exon | 12 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1_Sup PM5 PP1 PP3_Mod |