RS193922781 RYR1
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What This Variant Does
"rs193922781, aka p.Ser1728Phe or p.S1728F, is a SNP in the RYR1 gene deemed highly pathogenic for ma...
Associated Conditions
Malignant hyperthermia
susceptibility to
1
RYR1-related disorder
Malignant hyperthermia of anesthesia
Inborn genetic diseases
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Acute rhabdomyolysis
Malignant hyperthermia
susceptibility to
1
RYR1-related disorder
Other Variants in RYR1