RYR1 variant details of c.7048G>A p.(Ala2350Thr)
| genomic | c.7048G>A |
| protein | p.(Ala2350Thr) |
| exon | 44 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSa PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4 PM1 PP1_Strong PP3_Mod |
| genomic | c.7048G>A |
| protein | p.(Ala2350Thr) |
| exon | 44 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSa PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4 PM1 PP1_Strong PP3_Mod |