RYR1 variant details of c.7310C>T p.(Ala2437Val)
| genomic | c.7310C>T |
| protein | p.(Ala2437Val) |
| exon | 45 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1 PP3_Mod |
| genomic | c.7310C>T |
| protein | p.(Ala2437Val) |
| exon | 45 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1 PP3_Mod |