rs2474830430
This variant is located in the CC2D2A gene.
▶ClinVar annotation
About CC2D2A
This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
View all CC2D2A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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