RS118192122 RYR1
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What This Variant Does
"rs118192122, aka p.Arg2454His or p.R2454H, is a SNP in the RYR1 gene considered causative for malign...
Associated Conditions
Central core myopathy
Malignant hyperthermia
susceptibility to
1
RYR1-related disorder
halothane response - Toxicity
methoxyflurane response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity
desflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
Malignant hyperthermia of anesthesia
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Other Variants in RYR1