| Geno
|
Mag
|
Summary
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| (C;C)
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0
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common in complete genomics
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| (C;T)
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6.6
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Malignant Hyperthermia susceptibility
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rs118192177, aka p.Thr2206Met or p.T2206M, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.
23andMe name for c.6617C>T: i6017606
[PMID 9497245
] Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.
[PMID 12220451] Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation.
[PMID 18564] Effect of cystine on the metabolism on methionine in rats.
[PMID 12059893] Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.
[PMID 12434264] [Current aspects of the diagnosis of malignant hyperthermia].
[PMID 16835904] Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
[PMID 16917943] Mutations in RYR1 in malignant hyperthermia and central core disease.
[PMID 19919814] Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met.
] Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.
