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Variant (rsID / SNP)

rs121909133

CLCNKB

rs121909133 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCNKB. Location: chromosome 1, position 16,378,219. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CLCNKBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:16378219
Cytoband
1p36.13
HGVS
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys)
Allele change
Missense_R438C

Associated conditions / phenotypes

Bartter disease type 3

Public references

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