RS118192177 RYR1
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What This Variant Does
"rs118192177, aka p.Thr2206Met or p.T2206M, is a SNP in the RYR1 gene leading to increased susceptibi...
Associated Conditions
Malignant hyperthermia
susceptibility to
1
Absence of the sacrum
Ptosis
History of neonatal hypotonia
Malignant hyperthermia of anesthesia
RYR1-related disorder
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Inborn genetic diseases
Malignant hyperthermia
susceptibility to
1
Other Variants in RYR1