rs35455108

This variant is located in the TDP1 gene.

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ClinVar annotation

Likely Benign★★★☆
8 submitters2 publications

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1; not specified; not provided

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Research that mentions this SNP (1)

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Association of Tyrosyl‐DNA Phosphodiesterase 1 Polymorphism With Tourette Syndrome in Taiwanese Patients
AssociationN=228Bor‐Tsang Wu et al.(2013)· Journal of Clinical Laboratory Analysis

A case-control study of 122 Taiwanese children with Tourette syndrome (TS) and 106 normal controls found that the TDP1 gene SNP rs28365054 (c.400G>A, Ala134Thr) was significantly associated with TS. The AG genotype was a risk factor with an odds ratio of 2.26 (95% CI 1.08-4.72, P=0.0402), suggesting that variants in the TDP1 DNA repair gene may contribute to TS susceptibility.

Traits studied:Tourette syndrome
PubMedDOIMetascience Observatory

About TDP1

The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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