RYR1 variant details of c.6599C>T p.(Ala2200Val)
| genomic | c.6599C>T |
| protein | p.(Ala2200Val) |
| exon | 40 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPa PPc |
| VCEP classification | Likely pathogenic |
| VCEP criteria | PS4_Mod PM1 PP1_Mod |
| genomic | c.6599C>T |
| protein | p.(Ala2200Val) |
| exon | 40 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPa PPc |
| VCEP classification | Likely pathogenic |
| VCEP criteria | PS4_Mod PM1 PP1_Mod |