Rs118192172

rs118192172, aka p.Arg614Cys or p.R614C, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous. Note, however, that although this mutation is listed in OMIM plus at least two consensus lists of causative mutations for MH, there is a report of a 62 year old female carrying this variant who had "no family or personal history of MH, despite having surgery with general anesthesia thrice".


 * is_associated_with_disease::Malignant hyperthermia