TOR1A Chromosome 9
Torsin family 1 member A
Upload your DNA to see your personal genotypes for variants in TOR1A.
What This Gene Does
The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Torsins
Locus Type
gene with protein product
Location
9q34.11
Ensembl
ENSG00000136827
Associated Conditions (8)
Early-onset generalized limb-onset dystonia
Dystonic disorder
Inborn genetic diseases
Dystonia 1
torsion
late-onset
TOR1A-related disorder
Arthrogryposis multiplex congenita 5
Key Variants
RS148036363
Conflicting classifications of pathogenicity
Early-onset generalized limb-onset dystonia, Dystonic disorder, Inborn genetic diseases
Health Risk
RS148849547
Conflicting classifications of pathogenicity
Dystonic disorder, Dystonic disorder
Health Risk
RS199535970
Conflicting classifications of pathogenicity
Early-onset generalized limb-onset dystonia, Dystonic disorder, Early-onset generalized limb-onset dystonia
Health Risk
RS267607134
Conflicting classifications of pathogenicity
Dystonia 1, torsion, late-onset
Health Risk
RS727502811
Conflicting classifications of pathogenicity
Early-onset generalized limb-onset dystonia, Dystonic disorder, TOR1A-related disorder
Health Risk
RS748292862
Conflicting classifications of pathogenicity
Dystonic disorder, Inborn genetic diseases, Dystonic disorder
Health Risk
RS754509225
Conflicting classifications of pathogenicity
Dystonic disorder, Dystonic disorder
Health Risk
RS762152420
Conflicting classifications of pathogenicity
Dystonic disorder, Dystonic disorder
Health Risk
RS771740989
Conflicting classifications of pathogenicity
Early-onset generalized limb-onset dystonia, Early-onset generalized limb-onset dystonia
Health Risk
RS1297344700
Likely pathogenic
Health Risk
RS2490563082
Likely pathogenic
TOR1A-related disorder, TOR1A-related disorder
Health Risk
RS753220814
Likely pathogenic
Arthrogryposis multiplex congenita 5, Arthrogryposis multiplex congenita 5
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148036363 | Health Risk | Conflicting classifications of pathogenicity | Early-onset generalized limb-onset dystonia, Dystonic disorder, Inborn genetic diseases |
| RS148849547 | Health Risk | Conflicting classifications of pathogenicity | Dystonic disorder, Dystonic disorder |
| RS199535970 | Health Risk | Conflicting classifications of pathogenicity | Early-onset generalized limb-onset dystonia, Dystonic disorder, Early-onset generalized limb-onset dystonia |
| RS267607134 | Health Risk | Conflicting classifications of pathogenicity | Dystonia 1, torsion, late-onset |
| RS727502811 | Health Risk | Conflicting classifications of pathogenicity | Early-onset generalized limb-onset dystonia, Dystonic disorder, TOR1A-related disorder |
| RS748292862 | Health Risk | Conflicting classifications of pathogenicity | Dystonic disorder, Inborn genetic diseases, Dystonic disorder |
| RS754509225 | Health Risk | Conflicting classifications of pathogenicity | Dystonic disorder, Dystonic disorder |
| RS762152420 | Health Risk | Conflicting classifications of pathogenicity | Dystonic disorder, Dystonic disorder |
| RS771740989 | Health Risk | Conflicting classifications of pathogenicity | Early-onset generalized limb-onset dystonia, Early-onset generalized limb-onset dystonia |
| RS1297344700 | Health Risk | Likely pathogenic | — |
| RS2490563082 | Health Risk | Likely pathogenic | TOR1A-related disorder, TOR1A-related disorder |
| RS753220814 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 5, Arthrogryposis multiplex congenita 5 |
| RS774552108 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita 5, Inborn genetic diseases, Arthrogryposis multiplex congenita 5 |
| RS2030965698 | Health Risk | Pathogenic | Arthrogryposis multiplex congenita 5, Arthrogryposis multiplex congenita 5 |
| RS2131001171 | Health Risk | Pathogenic | Early-onset generalized limb-onset dystonia, Early-onset generalized limb-onset dystonia |
| RS2131004790 | Health Risk | Pathogenic | Early-onset generalized limb-onset dystonia, Early-onset generalized limb-onset dystonia |
| RS2131007486 | Health Risk | Pathogenic | Early-onset generalized limb-onset dystonia, Early-onset generalized limb-onset dystonia |
| RS760768475 | Health Risk | Pathogenic/Likely pathogenic | Early-onset generalized limb-onset dystonia, Arthrogryposis multiplex congenita 5, Dystonic disorder |
| RS80358233 | Health Risk | Pathogenic/Likely pathogenic | Early-onset generalized limb-onset dystonia, Dystonic disorder, Inborn genetic diseases |