rs2495729012

This variant is located in the BBS1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters3 publications

Bardet-Biedl syndrome; not specified

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About BBS1

Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]

View all BBS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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