RYR1 variant details of c.14210G>A p.(Arg4737Gln)
| genomic | c.14210G>A |
| protein | p.(Arg4737Gln) |
| exon | 98 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS4 PM1_Sup PP1_strong BS2_Mod PP3_Mod PS3_Mod |