RS193922772 RYR1
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What This Variant Does
"rs193922772, aka p.Arg614Leu or p.R614L, is a SNP in the RYR1 gene considered causative for malignan...
Associated Conditions
RYR1-related disorder
Malignant hyperthermia
susceptibility to
1
desflurane response - Toxicity
halothane response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
Central core myopathy
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Other Variants in RYR1