rs8074956

This variant is located in the CCDC40 gene.

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ClinVar annotation

Benign★★★☆
4 submitters2 publications

not specified; not provided; Primary ciliary dyskinesia

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About CCDC40

This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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