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rs118192177

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 3 susceptibility to malignant hyperthermia
Make rs118192177(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38496283
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192177
ebirs118192177
HLIrs118192177
Exacrs118192177
Varsomers118192177
Maprs118192177
PheGenIrs118192177
hapmaprs118192177
1000 genomesrs118192177
hgdprs118192177
ensemblrs118192177
gopubmedrs118192177
geneviewrs118192177
scholarrs118192177
googlers118192177
pharmgkbrs118192177
gwascentralrs118192177
openSNPrs118192177
23andMers118192177
23andMe allrs118192177
SNP Nexus

SNPshotrs118192177
SNPdbers118192177
MSV3drs118192177
GWAS Ctlgrs118192177
Merged fromRs28934000
Max Magnitude3
OMIM180901
Desc
Variant0014
Relatedalso
ClinVar
Risk rs118192177(G,T;G,T)
Alt rs118192177(G,T;G,T)
Reference rs118192177(C;C)
Significance Other
Disease not provided Malignant hyperthermia History of neonatal hypotonia Ptosis Sacral agenesis
Variation info
Gene RYR1
CLNDBN not provided Malignant hyperthermia, susceptibility to, 1 History of neonatal hypotonia Ptosis Sacral agenesis
Reversed 0
HGVS NC_000019.9:g.38986923C>G; NC_000019.9:g.38986923C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000119661.1, RCV000013846.2, RCV000119662.1, RCV000162149.1,



rs118192177, aka p.Thr2206Met or p.T2206M, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.


[PMID 9497245OA-icon.png] 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.