rs530037930
This variant is located in the TOR1A gene.
▶ClinVar annotation
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]
View all TOR1A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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