RYR1 variant details of c.6757C>T p.(His2253Tyr)
| genomic | c.6757C>T |
| protein | p.(His2253Tyr) |
| exon | 41 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | likely pathogenic |
| VCEP criteria | PS4_Mod PM1 PP3_Mod |
| genomic | c.6757C>T |
| protein | p.(His2253Tyr) |
| exon | 41 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPb PPc |
| VCEP classification | likely pathogenic |
| VCEP criteria | PS4_Mod PM1 PP3_Mod |