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rs1800559

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 4 susceptibility to malignant hyperthermia
(A;G) 4 susceptibility to malignant hyperthermia
(G;G) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome1
Position201060815
GeneCACNA1S
is asnp
is mentioned by
dbSNPrs1800559
ebirs1800559
HLIrs1800559
Exacrs1800559
Varsomers1800559
Maprs1800559
PheGenIrs1800559
hapmaprs1800559
1000 genomesrs1800559
hgdprs1800559
ensemblrs1800559
gopubmedrs1800559
geneviewrs1800559
scholarrs1800559
googlers1800559
pharmgkbrs1800559
gwascentralrs1800559
openSNPrs1800559
23andMers1800559
23andMe allrs1800559
SNP Nexus

SNPshotrs1800559
SNPdbers1800559
MSV3drs1800559
GWAS Ctlgrs1800559
Merged fromRs28931587
Max Magnitude4

rs1800559, also known as Arg1086His or R1086H, is a SNP in the CACNA1S gene on chromosome 1.

The rs1800559(A) allele is reported to be associated with malignant hyperthermia, type 5.[PMID 9199552OA-icon.png]

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249OA-icon.png]

OMIM114208
Desc
Variant0004
Relatedalso


ClinVar
Risk rs1800559(A,T;A,T)
Alt rs1800559(A,T;A,T)
Reference rs1800559(G;G)
Significance Other
Disease Malignant hyperthermia susceptibility type 5
Variation info
Gene CACNA1S
CLNDBN Malignant hyperthermia susceptibility type 5
Reversed 1
HGVS NC_000001.10:g.201029943C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019193.2,



[PMID 9199552OA-icon.png] Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.

[PMID 10590402] Genetics and pathogenesis of malignant hyperthermia.

[PMID 11260227] Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia.