RYR1 variant details of c.11708G>A p.(Arg3903Gln)
| genomic | c.11708G>A |
| protein | p.(Arg3903Gln) |
| exon | 85 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4 PP3_Mod |
| genomic | c.11708G>A |
| protein | p.(Arg3903Gln) |
| exon | 85 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4 PP3_Mod |