RYR1 variant details of c.14582G>A p.(Arg4861His)
| genomic | c.14582G>A |
| protein | p.(Arg4861His) |
| exon | 101 |
| EMHG classification | Likely Pathogenic |
| EMHG criteria | PSb PPb PPc BAb |
| VCEP classification | VUS |
| VCEP criteria | PP3_Mod PM1_Sup PS4_Sup PS3_Mod BS2 |
| genomic | c.14582G>A |
| protein | p.(Arg4861His) |
| exon | 101 |
| EMHG classification | Likely Pathogenic |
| EMHG criteria | PSb PPb PPc BAb |
| VCEP classification | VUS |
| VCEP criteria | PP3_Mod PM1_Sup PS4_Sup PS3_Mod BS2 |