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rs80356532

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356532(C;C)
Make rs80356532(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41985090
GeneATP1A3
is asnp
is mentioned by
dbSNPrs80356532
ebirs80356532
HLIrs80356532
Exacrs80356532
Varsomers80356532
Maprs80356532
PheGenIrs80356532
hapmaprs80356532
1000 genomesrs80356532
hgdprs80356532
ensemblrs80356532
gopubmedrs80356532
geneviewrs80356532
scholarrs80356532
googlers80356532
pharmgkbrs80356532
gwascentralrs80356532
openSNPrs80356532
23andMers80356532
23andMe allrs80356532
SNP Nexus

SNPshotrs80356532
SNPdbers80356532
MSV3drs80356532
GWAS Ctlgrs80356532
Max Magnitude0
OMIM182350
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80356532(A,C;A,C)
Alt rs80356532(A,C;A,C)
Reference rs80356532(T;T)
Significance Pathogenic
Disease Dystonia 12 Alternating hemiplegia of childhood 2
Variation info
Gene ATP1A3
CLNDBN Dystonia 12 Alternating hemiplegia of childhood 2
Reversed 1
HGVS NC_000019.9:g.42489242A>G; NC_000019.9:g.42489242A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013773.26, RCV000148305.1,


[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.