BBS1 Back

Bardet-Biedl syndrome 1

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NCBI Description of 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.

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


BBS1 is highly significantly mutated in
BBS1 is significantly mutated in
BBS1 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for BBS1