RYR1 variant details of c.742G>C p.(Gly248Arg)
| genomic | c.742G>C |
| protein | p.(Gly248Arg) |
| exon | 9 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS1 PS3_Mod PS4_Mod PM1_Sup PP1_Mod PP3_Mod |
| genomic | c.742G>C |
| protein | p.(Gly248Arg) |
| exon | 9 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS1 PS3_Mod PS4_Mod PM1_Sup PP1_Mod PP3_Mod |