rs1051318623

This variant is located in the CEP89 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About CEP89

Involved in mitochondrial cytochrome c oxidase assembly and non-motile cilium assembly. Acts upstream of or within cilium assembly. Located in several cellular components, including microtubule cytoskeleton; mitochondrial intermembrane space; and nuclear body. Part of ciliary transition fiber. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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