RYR1 variant details of c.1597C>T p.(Arg533Cys)
| genomic | c.1597C>T |
| protein | p.(Arg533Cys) |
| exon | 15 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSa PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4_Sup PM1 PP1_Strong PP3_Mod |
| genomic | c.1597C>T |
| protein | p.(Arg533Cys) |
| exon | 15 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSa PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4_Sup PM1 PP1_Strong PP3_Mod |