Bartter syndrome, infantile, with sensorineural deafness (Barttin)

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NCBI Description of BSND

This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness.

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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).


BSND is highly significantly mutated in
BSND is significantly mutated in
BSND is near significance in

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

Data details

Mutation list for BSND