RYR1 variant details of c.6628G>T p.(Val2210Phe)
| genomic | c.6628G>T |
| protein | p.(Val2210Phe) |
| exon | 40 |
| EMHG classification | Likely Pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1 PP3_Mod |
| genomic | c.6628G>T |
| protein | p.(Val2210Phe) |
| exon | 40 |
| EMHG classification | Likely Pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1 PP3_Mod |