RS121918593 RYR1

Drug Response Chr 19:38499992 snv missense variant
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What This Variant Does
"rs121918593, aka p.Gly2434Arg or p.G2434R, is a SNP in the RYR1 gene leading to susceptibility to ma...
Associated Conditions
Malignant hyperthermia
susceptibility to
1
RYR1-related disorder
Malignant hyperthermia of anesthesia
methoxyflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
enflurane response - Toxicity
halothane response - Toxicity
Central core myopathy
isoflurane response - Toxicity
sevoflurane response - Toxicity
Inborn genetic diseases
King Denborough syndrome
Population Frequencies
gnomAD ALL
0%
Other Variants in RYR1
rs118192122 rs193922843 rs118192161 rs118192116 rs118192124 rs28933397 rs193922747 rs118192167 rs121918595 rs118192170
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