RYR1 variant details of c.6487C>T p.(Arg2163Cys)
| genomic | c.6487C>T |
| protein | p.(Arg2163Cys) |
| exon | 39 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1_Sup PM5 PP1_Strong PP3_Mod BS2_Mod |