RYR1 variant details of c.14545G>A p.(Val4849Ile)
| genomic | c.14545G>A |
| protein | p.(Val4849Ile) |
| exon | 101 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4 PM1_Sup PP1_St |
| genomic | c.14545G>A |
| protein | p.(Val4849Ile) |
| exon | 101 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4 PM1_Sup PP1_St |