RYR1 variant details of c.7282G>A p.(Ala2428Thr)
| genomic | c.7282G>A |
| protein | p.(Ala2428Thr) |
| exon | 45 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1 PP3_Mod |
| genomic | c.7282G>A |
| protein | p.(Ala2428Thr) |
| exon | 45 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1 PP3_Mod |