RYR1 variant details of c.6488G>C p.(Arg2163Pro)
| genomic | c.6488G>C |
| protein | p.(Arg2163Pro) |
| exon | 39 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPa PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1_Sup PM5 PP1 PP3_Mod |
| genomic | c.6488G>C |
| protein | p.(Arg2163Pro) |
| exon | 39 |
| EMHG classification | Likely pathogenic |
| EMHG criteria | PMb PPa PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS4_Mod PM1_Sup PM5 PP1 PP3_Mod |