RYR1 variant details of c.7060G>A p.(Val2354Met)
| genomic | c.7060G>A |
| protein | p.(Val2354Met) |
| exon | 44 |
| EMHG classification | Pathogenic |
| EMHG criteria | PPa PPb PPc PMb PSb |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_mod PS4_mod PP1 supp PM1_mod PP3_mod |
| genomic | c.7060G>A |
| protein | p.(Val2354Met) |
| exon | 44 |
| EMHG classification | Pathogenic |
| EMHG criteria | PPa PPb PPc PMb PSb |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_mod PS4_mod PP1 supp PM1_mod PP3_mod |