rs144572721

This variant is located in the TOR1A gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter

Early-onset generalized limb-onset dystonia

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Research that mentions this SNP (1)

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Is TOR1A a risk factor in adult‐onset primary torsion dystonia?
ReviewJustus L. Groen et al.(2013)· Movement Disorders

This comprehensive literature review examines the role of single-nucleotide polymorphisms (SNPs) and genetic variants in dystonia susceptibility, reviewing 43 published studies (2001-2017) across 29 genes. Key findings include associations of TOR1A variants (rs1182, rs1801968, rs35153737) with focal dystonia, BDNF rs6265 (Val66Met) with cervical dystonia and blepharospasm, and preliminary GWAS-identified variants in ARSG (rs11655081, rs61999318) and NALCN with dystonia risk. The review concludes that genetic factors confer dystonia susceptibility through multiple pathways, though many associations require validation in larger cohorts.

Traits studied:BlepharospasmCervical dystoniaCranial dystoniaDystoniaFocal dystoniaGeneralized dystoniaMusician's dystoniaPrimary dystoniaPrimary torsion dystoniaSegmental dystoniaSpasmodic dysphoniaWriter's cramp
PubMedDOIMetascience Observatory

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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