RYR1 variant details of c.6838G>A p.(Val2280Ile)
| genomic | c.6838G>A |
| protein | p.(Val2280Ile) |
| exon | 42 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPa PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1 PS3_Mod |
| genomic | c.6838G>A |
| protein | p.(Val2280Ile) |
| exon | 42 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPa PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1 PS3_Mod |