{{Rsnum
|rsid=5253
|Gene=CLCNKB
|Chromosome=1
|position=16053701
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.1657
|Gene_s=CLCNKA,CLCNKB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 98.5 | 1.5 | 0.0
| HCB | 73.3 | 24.4 | 2.2
| JPT | 68.2 | 31.8 | 0.0
| YRI | 49.2 | 50.8 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 73.3 | 24.4 | 2.2
| 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=5253
|allele=C
|frequency=0.992
|uid=1103675030590
|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 = 2275166
| distance = 47
}}

{{GET Evidence
|gene=CLCNKB
|aa_change=Met393Thr
|aa_change_short=M393T
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs5253
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=2
|autoscore=2
|webscore=N
}}

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