RS111436401 RYR1

Health Risk Chr 19:38523115 snv splice donor variant
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What This Variant Does
"CLNSIG=4
Associated Conditions
Inborn genetic diseases
Congenital myopathy with fiber type disproportion
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia
susceptibility to
1
RYR1-related disorder
King Denborough syndrome
RYR1-related myopathy
Inborn genetic diseases
Congenital myopathy with fiber type disproportion
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia
Population Frequencies
gnomAD ALL
100%
Other Variants in RYR1
rs118192167 rs193922747 rs118192161 rs118192116 rs118192122 rs121918593 rs28933397 rs118192124 rs121918595 rs118192170
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