rs371803094

This variant is located in the B9D2 gene.

ClinVar annotation

Likely Benign☆☆☆
1 submitter1 publication

Meckel-Gruber syndrome;Joubert syndrome

View on ClinVar →

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]

View all B9D2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…