RS121918596 RYR1
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What This Variant Does
"rs121918596, aka p.Glu2347del, is a deletion SNP in the RYR1 gene associated with malignant hyperthe...
Associated Conditions
Malignant hyperthermia
susceptibility to
1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder
methoxyflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
enflurane response - Toxicity
halothane response - Toxicity
isoflurane response - Toxicity
sevoflurane response - Toxicity
Malignant hyperthermia
susceptibility to
1
Other Variants in RYR1