{{Rsnum
|rsid=2275166
|Gene=CLCNKB
|Chromosome=1
|position=16053748
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.2975
|Gene_s=CLCNKA,CLCNKB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 20.0 | 44.6 | 35.4
| HCB | 2.3 | 29.5 | 68.2
| JPT | 2.3 | 29.5 | 68.2
| YRI | 1.6 | 38.1 | 60.3
| ASW | 0.0 | 0.0 | 0.0
| CHB | 2.3 | 29.5 | 68.2
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=2275166
|allele=G
|frequency=0.583
|uid=1103675030591
|type=homozygous_SNP
|hugo=CLCNKB
|ensembl gene=ENSG00000184908
|ensembl transcript=ENST00000375679
|sift=TOLERATED
|disease=Defects in CLCNKB are a cause of Bartter syndrome type 3 (BS type 3) (MIM:607364); also known as classic Bartter syndrome. It is an autosomal recessive form of often severe intravascular volume depletion due to renal salt-wasting associated with low blood pressure, hypokalemic alkalosis, hypercalciuria, and normal serum magnesium levels.
}}

{{ neighbor
| rsid = 5253
| distance = 47
}}

{{GET Evidence
|gene=CLCNKB
|aa_change=Lys409Glu
|aa_change_short=K409E
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2275166
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}