RYR1 variant details of c.7007G>A p.(Arg2336His)
| genomic | c.7007G>A |
| protein | p.(Arg2336His) |
| exon | 43 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4 PM1 PP1_Strong PP3_Mod |
| genomic | c.7007G>A |
| protein | p.(Arg2336His) |
| exon | 43 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4 PM1 PP1_Strong PP3_Mod |