RYR1 variant details of c.1615T>C p.(Phe539Leu)
| genomic | c.1615T>C |
| protein | p.(Phe539Leu) |
| exon | 15 |
| EMHG classification | Likely Pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1 PP1 PP3_Mod |
| genomic | c.1615T>C |
| protein | p.(Phe539Leu) |
| exon | 15 |
| EMHG classification | Likely Pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1 PP1 PP3_Mod |