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rs118192172

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 3 susceptibility to malignant hyperthermia
Make rs118192172(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38457545
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192172
ebirs118192172
HLIrs118192172
Exacrs118192172
Varsomers118192172
Maprs118192172
PheGenIrs118192172
hapmaprs118192172
1000 genomesrs118192172
hgdprs118192172
ensemblrs118192172
gopubmedrs118192172
geneviewrs118192172
scholarrs118192172
googlers118192172
pharmgkbrs118192172
gwascentralrs118192172
openSNPrs118192172
23andMers118192172
23andMe allrs118192172
SNP Nexus

SNPshotrs118192172
SNPdbers118192172
MSV3drs118192172
GWAS Ctlgrs118192172
Merged fromRs28933996
Max Magnitude3
OMIM180901
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118192172(T;T)
Alt rs118192172(T;T)
Reference rs118192172(C;C)
Significance Other
Disease Malignant hyperthermia not provided
Variation info
Gene RYR1
CLNDBN Malignant hyperthermia, susceptibility to, 1 not provided
Reversed 0
HGVS NC_000019.9:g.38948185C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013830.6, RCV000119586.1,



rs118192172, aka p.Arg614Cys or p.R614C, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous. Note, however, that although this mutation is listed in OMIM plus at least two consensus lists of causative mutations for MH, there is a report [1] of a 62 year old female carrying this variant who had "no family or personal history of MH, despite having surgery with general anesthesia thrice".


[PMID 75] Characteristics of the dephosphorylated form of phosphorylase purified from rat liver and measurement of its activity in crude liver preparations.


[PMID 1774074] A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.


[PMID 7586638] A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia.


[PMID 7762556OA-icon.png] Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene.


[PMID 7889656] Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia.


[PMID 8401544] No C1840 to T mutation in RYR1 in malignant hyperthermia.


[PMID 9520251] Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation.


[PMID 18564801] Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots.