RYR1 variant details of c.6502G>A p.(Val2168Met)
| genomic | c.6502G>A |
| protein | p.(Val2168Met) |
| exon | 39 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4 PM1 PP1_Strong PP3_Mod |
| genomic | c.6502G>A |
| protein | p.(Val2168Met) |
| exon | 39 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4 PM1 PP1_Strong PP3_Mod |