RYR1 variant details of c.7523G>A p.(Arg2508His)
| genomic | c.7523G>A |
| protein | p.(Arg2508His) |
| exon | 47 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS2/PM6_Sup PS3_Mod PS4 PP3_Mod |
| genomic | c.7523G>A |
| protein | p.(Arg2508His) |
| exon | 47 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS2/PM6_Sup PS3_Mod PS4 PP3_Mod |