RYR1 variant details of c.7123G>A p.(Gly2375Arg)
| genomic | c.7123G>A |
| protein | p.(Gly2375Arg) |
| exon | 44 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS1_mod PS4_Sup PM1_Sup PP3_Mod |
| genomic | c.7123G>A |
| protein | p.(Gly2375Arg) |
| exon | 44 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS1_mod PS4_Sup PM1_Sup PP3_Mod |