rs573801

This variant is located in the CEP164 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (1)

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Cerebrospinal fluid Aβ42 levels and APP processing pathway genes in Parkinson's disease
AssociationN=246Lynn M. Bekris et al.(2015)· Movement Disorders

This case-control study examined genetic variation in APP processing pathway genes and their association with cerebrospinal fluid amyloid-beta 42 levels in Parkinson's disease patients (n=85) versus healthy controls (n=161). Two SNPs showed significant correlation with CSF Aβ42 in PD: APP rs466448 (lower levels, p=0.014) and APH1B rs2068143 (higher levels, p=0.002), while three SNPs correlated in controls: APP rs214484 and rs2040273, and PSEN1 rs362344 (all lower levels). Results suggest APP and APH1B genetic variants may modulate CSF Aβ42 levels in PD patients.

Traits studied:Cerebrospinal fluid amyloid-beta 42 levelsCognitive impairmentParkinson's disease
PubMedDOIMetascience Observatory

About CEP164

This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

View all CEP164 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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