RYR1 variant details of c.9310G>A p.(Glu3104Lys)
| genomic | c.9310G>A |
| protein | p.(Glu3104Lys) |
| exon | 63 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PP1_Mod PP3_Mod |
| genomic | c.9310G>A |
| protein | p.(Glu3104Lys) |
| exon | 63 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PP1_Mod PP3_Mod |