RYR1 variant details of c.7300G>A p.(Gly2434Arg)
| genomic | c.7300G>A |
| protein | p.(Gly2434Arg) |
| exon | 45 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3 PS4 PM1 PP1_Strong PP3_Mod BS2 |
| genomic | c.7300G>A |
| protein | p.(Gly2434Arg) |
| exon | 45 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3 PS4 PM1 PP1_Strong PP3_Mod BS2 |