rs1468150420
This variant is located in the CEP164 gene.
▶ClinVar annotation
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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