RYR1 variant details of c.103T>C p.(Cys35Arg)
| genomic | c.103T>C |
| protein | p.(Cys35Arg) |
| exon | 2 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPb PPa PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS4_Mod PM1 PP1_Strong PP3_Mod |
| genomic | c.103T>C |
| protein | p.(Cys35Arg) |
| exon | 2 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPb PPa PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS4_Mod PM1 PP1_Strong PP3_Mod |