RYR1 variant details of c.14497C>T p.(His4833Tyr)
| genomic | c.14497C>T |
| protein | p.(His4833Tyr) |
| exon | 100 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PPa PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1_Sup PP1_Mod PP3_Mod |