rs757863670

This is a variant in the B9D2 gene that changes a leucine to an proline.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters1 publication

Familial aplasia of the vermis; Joubert syndrome 34

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About B9D2

This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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