RYR1 variant details of c.529C>T p.(Arg177Cys)
| genomic | c.529C>T |
| protein | p.(Arg177Cys) |
| exon | 6 |
| EMHG classification | Likely Pathogenic |
| EMHG criteria | PMb PPa PPb PPc |
| VCEP classification | Pathogenic |
| VCEP criteria | PS2/PM6_Mod PS4 PM1 PP1_Strong PP3_Mod BS2_Mod |