Variant (rsID / SNP)

rs121909136

rs121909136 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCNKB. Location: chromosome 1, position 16,382,003. Clinical significance in the table: Pathogenic.

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Reference-table entries

CLCNKBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:16382003
Cytoband: 1p36.13
HGVS: NM_000085.5(CLCNKB):c.1830G>A (p.Trp610Ter)
Allele change: Nonsense_W610X

Associated conditions / phenotypes

Bartter syndrome, type 3, with hypocalciuria|Bartter disease type 3|Bartter disease type 4B

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.