RYR1 variant details of c.14209C>T p.(Arg4737Trp)
| genomic | c.14209C>T |
| protein | p.(Arg4737Trp) |
| exon | 98 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1_Sup PM5_Sup PP1 PP3_Mod |