RYR1 variant details of c.6617C>T p.(Thr2206Met)
| genomic | c.6617C>T |
| protein | p.(Thr2206Met) |
| exon | 40 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4 PM1_Sup PM5 PP1_Strong PP3_Mod BS2 |