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Variant (rsID / SNP)

rs202069201

CLCNKA

rs202069201 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCNKA. Location: chromosome 1, position 16,349,169. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CLCNKAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:16349169
Cytoband
1p36.13
HGVS
NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter)
Allele change
Nonsense_Q19X

Associated conditions / phenotypes

Bartter disease type 4B|Bartter disease type 3|Sensorineural hearing loss disorder

Public references

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