RYR1 variant details of c.488G>T p.(Arg163Leu)
| genomic | c.488G>T |
| protein | p.(Arg163Leu) |
| exon | 6 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1 PP3_Mod |
| genomic | c.488G>T |
| protein | p.(Arg163Leu) |
| exon | 6 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1 PP3_Mod |