RYR1 variant details of c.14627A>G p.(Lys4876Arg)
| genomic | c.14627A>G |
| protein | p.(Lys4876Arg) |
| exon | 101 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1_Sup PP1_St PP3_Mod |
| genomic | c.14627A>G |
| protein | p.(Lys4876Arg) |
| exon | 101 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1_Sup PP1_St PP3_Mod |