rs80358233
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 7 | Torsion dystonia |
| (-;GAG) | 7 | Torsion dystonia |
| (GAG;GAG) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 129814065 |
| Gene | TOR1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80358233 |
| dbSNP (classic) | rs80358233 |
| ClinGen | rs80358233 |
| ebi | rs80358233 |
| HLI | rs80358233 |
| Exac | rs80358233 |
| Gnomad | rs80358233 |
| Varsome | rs80358233 |
| LitVar | rs80358233 |
| Map | rs80358233 |
| PheGenI | rs80358233 |
| Biobank | rs80358233 |
| 1000 genomes | rs80358233 |
| hgdp | rs80358233 |
| ensembl | rs80358233 |
| geneview | rs80358233 |
| scholar | rs80358233 |
| rs80358233 | |
| pharmgkb | rs80358233 |
| gwascentral | rs80358233 |
| openSNP | rs80358233 |
| 23andMe | rs80358233 |
| SNPshot | rs80358233 |
| SNPdbe | rs80358233 |
| MSV3d | rs80358233 |
| GWAS Ctlg | rs80358233 |
| Merged from | Rs724159981 |
| Max Magnitude | 7 |
rs80358233, also known as deltaE302, c.907_909delGAG, or p.Glu303del, is a mutation in the TOR1A gene. Note that this gene may also be known as the DYT1 gene.
The risk allele rs80358233(-), i.e. the deletion, can be inherited as an autosomal dominant such that one copy is sufficient to cause torsion dystonia. However, more than half of carriers of such mutations don't exhibit symptoms, for reasons that remain unclear. However, the vast majority of cases that are diagnosed are associated with this (deltaE302) mutation, and it is a mutation most associated with Ashkenazi Jews.
Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant torsion dystonia (type 1).
Note that the clinical disease occurs in only 30% of mutation carriers, so in genetic terms, the penetrance is relatively low. A variant in another gene has been reported that modifies disease risk; see rs1801968 for details.
23andMe name: i4000446
| ClinVar | |
|---|---|
| Risk | Rs80358233(-;-) |
| Alt | Rs80358233(-;-) |
| Reference | Rs80358233(GAG;GAG) |
| Significance | Pathogenic |
| Disease | Dystonia 1 Dystonia not provided |
| Variation | info |
| Gene | TOR1A |
| CLNDBN | Dystonia 1 Dystonia not provided |
| Reversed | 1 |
| HGVS | NC_000009.11:g.132576341_132576343delCTC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005488.4, RCV000227741.2, RCV000412981.1, |
[PMID 108147] The response of a prostaglandin synthase preparation to the concentration of arachidonic acid [proceedings].
[PMID 9288096] The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
[PMID 12975293] Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.
[PMID 14711988
] Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.
[PMID 16364897] Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope.
[PMID 16682692] Stiff child syndrome with mutation of DYT1 gene.
