RS193922809 RYR1
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What This Variant Does
"rs193922809, aka p.Ala2428Thr or p.A2428T, is a SNP in the RYR1 gene considered causative for malign...
Associated Conditions
Malignant hyperthermia
susceptibility to
1
RYR1-related disorder
enflurane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
halothane response - Toxicity
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Other Variants in RYR1