RYR1 variant details of c.8189A>G p.(Asp2730Gly)
| genomic | c.8189A>G |
| protein | p.(Asp2730Gly) |
| exon | 51 |
| EMHG classification | likely pathogenic |
| EMHG criteria | PPa PPc PMb |
| VCEP classification | likely pathogenic |
| VCEP criteria | PS4_Mod PP1_Strong |
| genomic | c.8189A>G |
| protein | p.(Asp2730Gly) |
| exon | 51 |
| EMHG classification | likely pathogenic |
| EMHG criteria | PPa PPc PMb |
| VCEP classification | likely pathogenic |
| VCEP criteria | PS4_Mod PP1_Strong |