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rs80356534

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356534(C;T)
Make rs80356534(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41978041
GeneATP1A3
is asnp
is mentioned by
dbSNPrs80356534
ebirs80356534
HLIrs80356534
Exacrs80356534
Varsomers80356534
Maprs80356534
PheGenIrs80356534
hapmaprs80356534
1000 genomesrs80356534
hgdprs80356534
ensemblrs80356534
gopubmedrs80356534
geneviewrs80356534
scholarrs80356534
googlers80356534
pharmgkbrs80356534
gwascentralrs80356534
openSNPrs80356534
23andMers80356534
23andMe allrs80356534
SNP Nexus

SNPshotrs80356534
SNPdbers80356534
MSV3drs80356534
GWAS Ctlgrs80356534
Max Magnitude0
OMIM182350
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80356534(T;T)
Alt rs80356534(T;T)
Reference rs80356534(C;C)
Significance Pathogenic
Disease Dystonia 12
Variation info
Gene ATP1A3
CLNDBN Dystonia 12
Reversed 1
HGVS NC_000019.9:g.42482193G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013772.24,


[PMID 15260953] Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.


[PMID 17282997] The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.


[PMID 17516473] Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred.


[PMID 17595045] ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.