Variant (rsID / SNP)

rs5257

rs5257 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCNKB. Location: chromosome 1, position 16,373,124. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CLCNKBBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:16373124
Cytoband: 1p36.13
HGVS: NM_000085.5(CLCNKB):c.324A>G (p.Ser108=)
Allele change: Synonymous_S108S

Associated conditions / phenotypes

Bartter disease type 4B|Bartter disease type 3

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.