RYR1 variant details of c.11969G>T p.(Gly3990Val)
| genomic | c.11969G>T |
| protein | p.(Gly3990Val) |
| exon | 87 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4 PP1_St |
| genomic | c.11969G>T |
| protein | p.(Gly3990Val) |
| exon | 87 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4 PP1_St |