RYR1 variant details of c.1021G>A p.(Gly341Arg)
| genomic | c.1021G>A |
| protein | p.(Gly341Arg) |
| exon | 11 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4 PM1 PP1_Strong PP3_Mod BS2_Mod |
| genomic | c.1021G>A |
| protein | p.(Gly341Arg) |
| exon | 11 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4 PM1 PP1_Strong PP3_Mod BS2_Mod |