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Variant (rsID / SNP)

rs139329616

SLC12A3

rs139329616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC12A3. Location: chromosome 16, position 56,918,023. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC12A3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:56918023
Cytoband
16q13
HGVS
NM_001126108.2(SLC12A3):c.1732G>A (p.Val578Met)
Allele change
Missense_V577M

Associated conditions / phenotypes

Familial hypokalemia-hypomagnesemia

Public references

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