RYR1 variant details of c.11315G>A p.(Arg3772Gln)
| genomic | c.11315G>A |
| protein | p.(Arg3772Gln) |
| exon | 79 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPa PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PP1_Strong PP3_Mod BS2_Mod |