RS367543058 RYR1
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What This Variant Does
"CLNSIG=255
Associated Conditions
Congenital myopathy with fiber type disproportion
Central core myopathy
RYR1-related disorder
Malignant hyperthermia
susceptibility to
1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related myopathy
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Central core myopathy
RYR1-related disorder
Malignant hyperthermia
susceptibility to
1
Other Variants in RYR1