rs748292862

This variant is located in the TOR1A gene.

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ClinVar annotation

Conflicting Classifications
2 submitters3 publications

Dystonic disorder; Inborn genetic diseases

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About TOR1A

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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