rs200240034

This variant is located in the BBS12 gene.

▶

ClinVar annotation

Uncertain Significance★★★☆
6 submitters2 publications

Bardet-Biedl syndrome; Bardet-Biedl syndrome 12; BBS12-related disorder

View on ClinVar →

About BBS12

The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

View all BBS12 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…