RYR1 variant details of c.130C>T p.(Arg44Cys)
| genomic | c.130C>T |
| protein | p.(Arg44Cys) |
| exon | 2 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1 PP3_Mod |
| genomic | c.130C>T |
| protein | p.(Arg44Cys) |
| exon | 2 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1 PP3_Mod |