rs1560706527

This variant is located in the BBS12 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Bardet-Biedl syndrome; Inborn genetic diseases

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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