RS200563280 RYR1
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What This Variant Does
"rs200563280, aka p.Arg2241X or p.R2241X, is a SNP in the RYR1 gene deemed highly pathogenic for mali...
Associated Conditions
Multi-minicore disease and atypical periodic paralysis
Malignant hyperthermia
susceptibility to
1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Neuromuscular disease
RYR1-related disorder
Hydrops fetalis
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Multi-minicore disease and atypical periodic paralysis
Malignant hyperthermia
susceptibility to
1
Other Variants in RYR1