RYR1 variant details of c.1024G>A p.(Glu342Lys)
| genomic | c.1024G>A |
| protein | p.(Glu342Lys) |
| exon | 11 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPa PPb PPc |
| VCEP classification | Likely pathogenic |
| VCEP criteria | PM1 PP3_Mod PS3_Mod PS4_Mod |
| genomic | c.1024G>A |
| protein | p.(Glu342Lys) |
| exon | 11 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPa PPb PPc |
| VCEP classification | Likely pathogenic |
| VCEP criteria | PM1 PP3_Mod PS3_Mod PS4_Mod |