RYR1 variant details of c.6617C>G p.(Thr2206Arg)
| genomic | c.6617C>G |
| protein | p.(Thr2206Arg) |
| exon | 40 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1 PP1_Mod PP3_Mod |
| genomic | c.6617C>G |
| protein | p.(Thr2206Arg) |
| exon | 40 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1 PP1_Mod PP3_Mod |