RYR1 variant details of c.742G>A p.(Gly248Arg)
| genomic | c.742G>A |
| protein | p.(Gly248Arg) |
| exon | 9 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSa PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Mod PS4 PM1 PP1 PP3_Mod BS2_Mod |
| genomic | c.742G>A |
| protein | p.(Gly248Arg) |
| exon | 9 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSa PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Mod PS4 PM1 PP1 PP3_Mod BS2_Mod |