RYR1 variant details of c.6488G>T p.(Arg2163Leu)
| genomic | c.6488G>T |
| protein | p.(Arg2163Leu) |
| exon | 39 |
| EMHG classification | likely pathogenic |
| EMHG criteria | PPb |
| VCEP classification | VUS |
| VCEP criteria | PS4_Sup PM1_Sup PM5 PP3_Mod |
| genomic | c.6488G>T |
| protein | p.(Arg2163Leu) |
| exon | 39 |
| EMHG classification | likely pathogenic |
| EMHG criteria | PPb |
| VCEP classification | VUS |
| VCEP criteria | PS4_Sup PM1_Sup PM5 PP3_Mod |