RS193922856 RYR1
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What This Variant Does
"CLNSIG=5
Associated Conditions
Neuromuscular disease
congenital
with uniform type 1 fiber
RYR1-related disorder
Central core myopathy
RYR1-related myopathy
Congenital multicore myopathy with external ophthalmoplegia
Neuromuscular disease
congenital
with uniform type 1 fiber
RYR1-related disorder
Central core myopathy
RYR1-related myopathy
Congenital multicore myopathy with external ophthalmoplegia
Other Variants in RYR1