RYR1 variant details of c.7042_7044del p.(Glu2348del)
| genomic | c.7042_7044del |
| protein | p.(Glu2348del) |
| exon | 44 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1 PP1 |
| genomic | c.7042_7044del |
| protein | p.(Glu2348del) |
| exon | 44 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1 PP1 |