RYR1 variant details of c.1021G>C p.(Gly341Arg)
| genomic | c.1021G>C |
| protein | p.(Gly341Arg) |
| exon | 11 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS1 PS3_Mod PS4_Mod PM1_Sup PP3_Mod |
| genomic | c.1021G>C |
| protein | p.(Gly341Arg) |
| exon | 11 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS1 PS3_Mod PS4_Mod PM1_Sup PP3_Mod |