RYR1 variant details of c.8638G>A p.(Glu2880Lys)
| genomic | c.8638G>A |
| protein | p.(Glu2880Lys) |
| exon | 56 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPa PPb PPc |
| VCEP classification | VUS |
| VCEP criteria | PS4_Supp PP3_Mod |
| genomic | c.8638G>A |
| protein | p.(Glu2880Lys) |
| exon | 56 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPa PPb PPc |
| VCEP classification | VUS |
| VCEP criteria | PS4_Supp PP3_Mod |