RYR1 variant details of c.7879G>C p.(Val2627Leu)
| genomic | c.7879G>C |
| protein | p.(Val2627Leu) |
| exon | 49 |
| EMHG classification | pathogenic |
| EMHG criteria | PPa PPb PPc PMb PSb |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_mod PS4_mod PP1_strong PP3_mod |
| genomic | c.7879G>C |
| protein | p.(Val2627Leu) |
| exon | 49 |
| EMHG classification | pathogenic |
| EMHG criteria | PPa PPb PPc PMb PSb |
| VCEP classification | Pathogenic |
| VCEP criteria | PS3_mod PS4_mod PP1_strong PP3_mod |