BSND Chromosome 1
Barttin CLCNK type accessory subunit beta
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Associated Conditions (9)
Bartter disease type 4A
Inborn genetic diseases
Bartter syndrome
BSND-related disorder
Bartter syndrome type 4
Sensorineural deafness with mild renal dysfunction
Hearing loss
autosomal recessive
Hearing impairment
Key Variants
RS1188080726
Conflicting classifications of pathogenicity
Bartter disease type 4A, Bartter disease type 4A
Health Risk
RS1301227852
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139049536
Conflicting classifications of pathogenicity
Bartter disease type 4A, Inborn genetic diseases, Bartter disease type 4A
Health Risk
RS141403253
Conflicting classifications of pathogenicity
Bartter disease type 4A, Bartter syndrome, Bartter disease type 4A
Health Risk
RS143711308
Conflicting classifications of pathogenicity
Bartter syndrome, Inborn genetic diseases, Bartter syndrome
Health Risk
RS147394986
Conflicting classifications of pathogenicity
Bartter syndrome, Inborn genetic diseases, Bartter syndrome
Health Risk
RS150426464
Conflicting classifications of pathogenicity
Health Risk
RS180858237
Conflicting classifications of pathogenicity
Bartter disease type 4A, Bartter syndrome, Bartter disease type 4A
Health Risk
RS199832638
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200071888
Conflicting classifications of pathogenicity
Bartter disease type 4A, Inborn genetic diseases, Bartter disease type 4A
Health Risk
RS200246335
Conflicting classifications of pathogenicity
Bartter disease type 4A, Bartter syndrome, Inborn genetic diseases
Health Risk
RS201342416
Conflicting classifications of pathogenicity
Bartter disease type 4A, Bartter syndrome, BSND-related disorder
Health Risk
All Variants (51)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754523289 | Health Risk | Pathogenic/Likely pathogenic | Bartter disease type 4A, Bartter syndrome, Bartter disease type 4A |