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Variant (rsID / SNP)

rs200253241

SLC12A3

rs200253241 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC12A3. Location: chromosome 16, position 56,928,499. 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
16:56928499
Cytoband
16q13
HGVS
NM_001126108.2(SLC12A3):c.2578A>G (p.Lys860Glu)
Allele change
Missense_K868E

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.