RYR1 variant details of c.1202G>A p.(Arg401His)
| genomic | c.1202G>A |
| protein | p.(Arg401His) |
| exon | 12 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4 PM1 PP1 PP3_Mod |
| genomic | c.1202G>A |
| protein | p.(Arg401His) |
| exon | 12 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4 PM1 PP1 PP3_Mod |