RYR1 variant details of c.14918C>T p.(Pro4973Leu)
| genomic | c.14918C>T |
| protein | p.(Pro4973Leu) |
| exon | 104 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1_Sup PP1_Sup PP3_Mod |
| genomic | c.14918C>T |
| protein | p.(Pro4973Leu) |
| exon | 104 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1_Sup PP1_Sup PP3_Mod |