RYR1 variant details of c.7354C>T p.(Arg2452Trp)
| genomic | c.7354C>T |
| protein | p.(Arg2452Trp) |
| exon | 46 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1 PP1_Mod |
| genomic | c.7354C>T |
| protein | p.(Arg2452Trp) |
| exon | 46 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1 PP1_Mod |