rs80356534
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80356534(C;T) |
| Make rs80356534(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 41978041 |
| Gene | ATP1A3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356534 |
| dbSNP (classic) | rs80356534 |
| ClinGen | rs80356534 |
| ebi | rs80356534 |
| HLI | rs80356534 |
| Exac | rs80356534 |
| Gnomad | rs80356534 |
| Varsome | rs80356534 |
| LitVar | rs80356534 |
| Map | rs80356534 |
| PheGenI | rs80356534 |
| Biobank | rs80356534 |
| 1000 genomes | rs80356534 |
| hgdp | rs80356534 |
| ensembl | rs80356534 |
| geneview | rs80356534 |
| scholar | rs80356534 |
| rs80356534 | |
| pharmgkb | rs80356534 |
| gwascentral | rs80356534 |
| openSNP | rs80356534 |
| 23andMe | rs80356534 |
| SNPshot | rs80356534 |
| SNPdbe | rs80356534 |
| MSV3d | rs80356534 |
| GWAS Ctlg | rs80356534 |
| Max Magnitude | 0 |
| 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 UniProtKB (protein) |
| CLNACC | RCV000013772.25, |
[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.
