RYR1 variant details of c.5132A>G p.(Tyr1711Cys)
| genomic | c.5132A>G |
| protein | p.(Tyr1711Cys) |
| exon | 34 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPa PPc |
| VCEP classification | VUS |
| VCEP criteria | PS4_Sup PS3_Mod PP1_Sup |
| genomic | c.5132A>G |
| protein | p.(Tyr1711Cys) |
| exon | 34 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPa PPc |
| VCEP classification | VUS |
| VCEP criteria | PS4_Sup PS3_Mod PP1_Sup |