RYR1 variant details of c.12700G>C p.(Val4234Leu)
| genomic | c.12700G>C |
| protein | p.(Val4234Leu) |
| exon | 91 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPa PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PP1_Strong PP3_Mod |
| genomic | c.12700G>C |
| protein | p.(Val4234Leu) |
| exon | 91 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPa PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PP1_Strong PP3_Mod |