RYR1 variant details of c.7090T>G p.(Phe2364Val)
| genomic | c.7090T>G |
| protein | p.(Phe2364Val) |
| exon | 44 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPb |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1 PP3_Mod |
| genomic | c.7090T>G |
| protein | p.(Phe2364Val) |
| exon | 44 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPb |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1 PP3_Mod |