RYR1 variant details of c.38T>G p.(Leu13Arg)
| genomic | c.38T>G |
| protein | p.(Leu13Arg) |
| exon | 1 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1 PP1 |
| genomic | c.38T>G |
| protein | p.(Leu13Arg) |
| exon | 1 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1 PP1 |