RYR1 variant details of c.12533G>T p.(Gly4178Val)
| genomic | c.12533G>T |
| protein | p.(Gly4178Val) |
| exon | 90 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb. PPc |
| VCEP classification | VUS |
| VCEP criteria | PS4_Mod PP3_Mod |
| genomic | c.12533G>T |
| protein | p.(Gly4178Val) |
| exon | 90 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb. PPc |
| VCEP classification | VUS |
| VCEP criteria | PS4_Mod PP3_Mod |