rs375761489

This variant is located in the CEP83 gene.

ClinVar annotation

Likely Benign☆☆☆
1 submitter1 publication

Nephronophthisis 18

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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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