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Variant (rsID / SNP)

rs137853157

SLC12A1

rs137853157 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC12A1. Location: chromosome 15, position 48,543,967. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC12A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:48543967
Cytoband
15q21.1
HGVS
NM_000338.3(SLC12A1):c.1942G>A (p.Asp648Asn)
Allele change
Missense_D648N

Associated conditions / phenotypes

Bartter disease type 1|Bartter syndrome|Familial hypokalemia-hypomagnesemia

Public references

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