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rs121918592

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 susceptibility to malignant hyperthermia
(G;G) 0 common


Make rs121918592(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position38448712
GeneRYR1
is asnp
is mentioned by
dbSNPrs121918592
ebirs121918592
HLIrs121918592
Exacrs121918592
Varsomers121918592
Maprs121918592
PheGenIrs121918592
hapmaprs121918592
1000 genomesrs121918592
hgdprs121918592
ensemblrs121918592
gopubmedrs121918592
geneviewrs121918592
scholarrs121918592
googlers121918592
pharmgkbrs121918592
gwascentralrs121918592
openSNPrs121918592
23andMers121918592
23andMe allrs121918592
SNP Nexus

SNPshotrs121918592
SNPdbers121918592
MSV3drs121918592
GWAS Ctlgrs121918592
Merged fromRs28933997
Max Magnitude3
OMIM180901
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918592(A,C;A,C)
Alt rs121918592(A,C;A,C)
Reference rs121918592(G;G)
Significance Other
Disease Malignant hyperthermia not provided Central core disease
Variation info
Gene RYR1
CLNDBN Malignant hyperthermia, susceptibility to, 1 not provided Central core disease
Reversed 0
HGVS NC_000019.9:g.38939352G>A; NC_000019.9:g.38939352G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013836.2, RCV000119406.1, RCV000174015.1, RCV000119407.1,



rs121918592, aka p.Gly341Arg or p.G341R, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.


[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 16917943] Mutations in RYR1 in malignant hyperthermia and central core disease.


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


[PMID 16732084] Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.