RYR1 variant details of c.6612C>G p.(His2204Gln)
| genomic | c.6612C>G |
| protein | p.(His2204Gln) |
| exon | 40 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPa PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1 PP1_Sup |
| genomic | c.6612C>G |
| protein | p.(His2204Gln) |
| exon | 40 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPa PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1 PP1_Sup |