RYR1 variant details of c.455C>A p.(Ala152Asp)
| genomic | c.455C>A |
| protein | p.(Ala152Asp) |
| exon | 6 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely pathogenic |
| VCEP criteria | PS4_Mod PM1 PP3_Mod |
| genomic | c.455C>A |
| protein | p.(Ala152Asp) |
| exon | 6 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely pathogenic |
| VCEP criteria | PS4_Mod PM1 PP3_Mod |