RYR1 variant details of c.14477C>T p.(Thr4826Ile)
| genomic | c.14477C>T |
| protein | p.(Thr4826Ile) |
| exon | 100 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb Ppa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3 PS4 PM1_Sup PP1_Strong PP3_Mod |
| genomic | c.14477C>T |
| protein | p.(Thr4826Ile) |
| exon | 100 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb Ppa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3 PS4 PM1_Sup PP1_Strong PP3_Mod |