RYR1 variant details of c.12700G>T p.(Val4234Leu)
| genomic | c.12700G>T |
| protein | p.(Val4234Leu) |
| exon | 91 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS1_Mod PS4_Mod PP1 PP3_Mod |
| genomic | c.12700G>T |
| protein | p.(Val4234Leu) |
| exon | 91 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS1_Mod PS4_Mod PP1 PP3_Mod |