RYR1 variant details of c.1840C>T p.(Arg614Cys)
| genomic | c.1840C>T |
| protein | p.(Arg614Cys) |
| exon | 17 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSa PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4 PM5 PP1_Strong PP3_Mod BS2_Mod |
| genomic | c.1840C>T |
| protein | p.(Arg614Cys) |
| exon | 17 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSa PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4 PM5 PP1_Strong PP3_Mod BS2_Mod |