RYR1 variant details of c.14813T>C p.(Ile4938Thr)
| genomic | c.14813T>C |
| protein | p.(Ile4938Thr) |
| exon | 103 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPb PPc |
| VCEP classification | VUS |
| VCEP criteria | PS3_Mod PS4_Sup PM1_Sup PP3_Mod BS2_Mod BS3_Sup |
| genomic | c.14813T>C |
| protein | p.(Ile4938Thr) |
| exon | 103 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPb PPc |
| VCEP classification | VUS |
| VCEP criteria | PS3_Mod PS4_Sup PM1_Sup PP3_Mod BS2_Mod BS3_Sup |