rs80356532

Orientation

minus

Stabilized

minus

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

Make rs80356532(C;C)

Make rs80356532(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41985090

Gene

ATP1A3

is a	snp
is	mentioned by
dbSNP	rs80356532
dbSNP (classic)	rs80356532
ClinGen	rs80356532
ebi	rs80356532
HLI	rs80356532
Exac	rs80356532
Gnomad	rs80356532
Varsome	rs80356532
LitVar	rs80356532
Map	rs80356532
PheGenI	rs80356532
Biobank	rs80356532
1000 genomes	rs80356532
hgdp	rs80356532
ensembl	rs80356532
geneview	rs80356532
scholar	rs80356532
google	rs80356532
pharmgkb	rs80356532
gwascentral	rs80356532
openSNP	rs80356532
23andMe	rs80356532
SNPshot	rs80356532
SNPdbe	rs80356532
MSV3d	rs80356532
GWAS Ctlg	rs80356532

Max Magnitude

0

OMIM	182350
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80356532(A;A) rs80356532(C;C)
Alt	rs80356532(A;A) rs80356532(C;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 UniProtKB (protein)
CLNACC	RCV000013773.27, 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.