rs3087453

This variant is located in the B9D2 gene.

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ClinVar annotation

Benign★★★☆
4 submitters2 publications

not specified; Meckel-Gruber syndrome;Joubert syndrome; not provided; Sarcoma; Gastric cancer; Uterine corpus endometrial carcinoma

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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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