RYR1 variant details of c.1654C>T p.(Arg552Trp)
| genomic | c.1654C>T |
| protein | p.(Arg552Trp) |
| exon | 15 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1 PP1 |
| genomic | c.1654C>T |
| protein | p.(Arg552Trp) |
| exon | 15 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1 PP1 |