RYR1 variant details of c.14512C>G p.(Leu4838Val)
| genomic | c.14512C>G |
| protein | p.(Leu4838Val) |
| exon | 101 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Sup PS4_Mod PM1_Sup PP3_Mod |
| genomic | c.14512C>G |
| protein | p.(Leu4838Val) |
| exon | 101 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Sup PS4_Mod PM1_Sup PP3_Mod |