RS193922839 RYR1
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What This Variant Does
"CLNSIG=5
Associated Conditions
Progressive distal muscle weakness
Pelvic girdle muscle weakness
Delayed gross motor development
Proximal muscle weakness
Scoliosis
Malignant hyperthermia of anesthesia
Neuromuscular disease
RYR1-related disorder
Malignant hyperthermia
susceptibility to
1
Inborn genetic diseases
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder
Other Variants in RYR1