RS193922816 RYR1
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What This Variant Does
"rs193922816, aka p.Arg2454Cys or p.R2454C, is a SNP in the RYR1 gene considered causative for malign...
Associated Conditions
Malignant hyperthermia of anesthesia
RYR1-related disorder
Malignant hyperthermia
susceptibility to
1
enflurane response - Toxicity
isoflurane response - Toxicity
succinylcholine response - Toxicity
halothane response - Toxicity
sevoflurane response - Toxicity
methoxyflurane response - Toxicity
desflurane response - Toxicity
RYR1-related myopathy
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder
Other Variants in RYR1