RYR1 variant details of c.7522C>T p.(Arg2508Cys)
| genomic | c.7522C>T |
| protein | p.(Arg2508Cys) |
| exon | 47 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Strong PS4_Mod PM5_Sup PP3_Mod |
| genomic | c.7522C>T |
| protein | p.(Arg2508Cys) |
| exon | 47 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Strong PS4_Mod PM5_Sup PP3_Mod |