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rs80356537

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356537(G;T)
Make rs80356537(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41970405
GeneATP1A3
is asnp
is mentioned by
dbSNPrs80356537
ebirs80356537
HLIrs80356537
Exacrs80356537
Varsomers80356537
Maprs80356537
PheGenIrs80356537
hapmaprs80356537
1000 genomesrs80356537
hgdprs80356537
ensemblrs80356537
gopubmedrs80356537
geneviewrs80356537
scholarrs80356537
googlers80356537
pharmgkbrs80356537
gwascentralrs80356537
openSNPrs80356537
23andMers80356537
23andMe allrs80356537
SNP Nexus

SNPshotrs80356537
SNPdbers80356537
MSV3drs80356537
GWAS Ctlgrs80356537
Max Magnitude0
OMIM182350
Desc
Variant0006
Relatedalso
ClinVar
Risk rs80356537(A,T;A,T)
Alt rs80356537(A,T;A,T)
Reference rs80356537(G;G)
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.42474557C>A; NC_000019.9:g.42474557C>G; NC_000019.9:g.42474557C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013777.19, RCV000193987.1, RCV000030749.22,


[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.