RYR1 variant details of c.11958C>G p.(Asp3986Glu)
| genomic | c.11958C>G |
| protein | p.(Asp3986Glu) |
| exon | 87 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPa PPc |
| VCEP classification | Likely pathogenic |
| VCEP criteria | PS4 PP1_strong BS3_Sup |
| genomic | c.11958C>G |
| protein | p.(Asp3986Glu) |
| exon | 87 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPa PPc |
| VCEP classification | Likely pathogenic |
| VCEP criteria | PS4 PP1_strong BS3_Sup |