RYR1 variant details of c.7292A>T p.(Asp2431Val)
| genomic | c.7292A>T |
| protein | p.(Asp2431Val) |
| exon | 45 |
| EMHG classification | pathogenic |
| EMHG criteria | PPb PPc PMb PSb |
| VCEP classification | likely pathogenic |
| VCEP criteria | PS3_mod PS4_mod PM1 PP3_mod |
| genomic | c.7292A>T |
| protein | p.(Asp2431Val) |
| exon | 45 |
| EMHG classification | pathogenic |
| EMHG criteria | PPb PPc PMb PSb |
| VCEP classification | likely pathogenic |
| VCEP criteria | PS3_mod PS4_mod PM1 PP3_mod |