RYR1 variant details of c.5183C>T p.(Ser1728Phe)
| genomic | c.5183C>T |
| protein | p.(Ser1728Phe) |
| exon | 34 |
| EMHG classification | Likely Pathogenic |
| EMHG criteria | PMb PPa PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4 PP1_Strong BP4 |
| genomic | c.5183C>T |
| protein | p.(Ser1728Phe) |
| exon | 34 |
| EMHG classification | Likely Pathogenic |
| EMHG criteria | PMb PPa PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4 PP1_Strong BP4 |