RYR1 variant details of c.6863T>C p.(Leu2288Ser)
| genomic | c.6863T>C |
| protein | p.(Leu2288Ser) |
| exon | 42 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPb PPc |
| VCEP classification | Likely pathogenic |
| VCEP criteria | PM1 PP3_Mod PS3_Mod PS4_Sup |
| genomic | c.6863T>C |
| protein | p.(Leu2288Ser) |
| exon | 42 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPb PPc |
| VCEP classification | Likely pathogenic |
| VCEP criteria | PM1 PP3_Mod PS3_Mod PS4_Sup |