Variant: rs80358233 

    present in Gene: TOR1A
    present in Chromosome: 9
    Position on Chromosome: 129814062
    Alleles of this Variant: CTC/-

rs80358233 in TOR1A gene and DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT PMID 9288096 1997 The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.

PMID 10627938 1999 Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.

PMID 9576529 1998 The molecular genetics of the dystonias.

PMID 10435508 1999 GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.

PMID 25403864 2014 Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions.

PMID 21168499 2011 Genetic and clinical features of primary torsion dystonia.

rs80358233 in TOR1A gene and Dystonia PMID 9874484 1998 The role of DYT1 in primary torsion dystonia in Europe.

PMID 9288096 1997 The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.