RYR1 variant details of c.11416G>A p.(Gly3806Arg)
| genomic | c.11416G>A |
| protein | p.(Gly3806Arg) |
| exon | 80 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPa PPb PPc |
| VCEP classification | VUS |
| VCEP criteria | PS3_Mod PS4_Sup PP3_Mod |
| genomic | c.11416G>A |
| protein | p.(Gly3806Arg) |
| exon | 80 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPa PPb PPc |
| VCEP classification | VUS |
| VCEP criteria | PS3_Mod PS4_Sup PP3_Mod |