rs80356537

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs80356537(G;T)

Make rs80356537(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41970405

Gene

ATP1A3

is a	snp
is	mentioned by
dbSNP	rs80356537
dbSNP (classic)	rs80356537
ClinGen	rs80356537
ebi	rs80356537
HLI	rs80356537
Exac	rs80356537
Gnomad	rs80356537
Varsome	rs80356537
LitVar	rs80356537
Map	rs80356537
PheGenI	rs80356537
Biobank	rs80356537
1000 genomes	rs80356537
hgdp	rs80356537
ensembl	rs80356537
geneview	rs80356537
scholar	rs80356537
google	rs80356537
pharmgkb	rs80356537
gwascentral	rs80356537
openSNP	rs80356537
23andMe	rs80356537
SNPshot	rs80356537
SNPdbe	rs80356537
MSV3d	rs80356537
GWAS Ctlg	rs80356537

Max Magnitude

0

OMIM	182350
Desc
Variant	0006
Related	also

ClinVar
Risk	rs80356537(A;A) rs80356537(C;C) rs80356537(T;T)
Alt	rs80356537(A;A) rs80356537(C;C) rs80356537(T;T)
Reference	Rs80356537(G;G)
Significance	Pathogenic
Disease	Dystonia 12 Alternating hemiplegia of childhood 2 not provided
Variation	info
Gene	ATP1A3
CLNDBN	Dystonia 12 Alternating hemiplegia of childhood 2 not provided
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 UniProtKB (protein)
CLNACC	RCV000013777.20, RCV000193987.1, RCV000030749.24, RCV000413511.1,

[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.