RYR1 variant details of c.7124G>C p.(Gly2375Ala)
| genomic | c.7124G>C |
| protein | p.(Gly2375Ala) |
| exon | 44 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1 PP1_Mod PP3_Mod |
| genomic | c.7124G>C |
| protein | p.(Gly2375Ala) |
| exon | 44 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1 PP1_Mod PP3_Mod |