RS193922868 RYR1
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What This Variant Does
"CLNSIG=5
Associated Conditions
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia
susceptibility to
1
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia
susceptibility to
1
Central core myopathy
Congenital myopathy with fiber type disproportion
Other Variants in RYR1