rs150415429

This variant is located in the CEP83 gene.

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ClinVar annotation

Conflicting Classifications
4 submitters2 publications

Nephronophthisis 18; CEP83-related disorder; not provided

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About CEP83

The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]

View all CEP83 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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