RYR1 variant details of c.8026C>T p.(Arg2676Trp)
| genomic | c.8026C>T |
| protein | p.(Arg2676Trp) |
| exon | 50 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPa PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PP1_Strong |
| genomic | c.8026C>T |
| protein | p.(Arg2676Trp) |
| exon | 50 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPa PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PP1_Strong |