Variant (rsID / SNP)

rs140012781

rs140012781 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC12A3. Location: chromosome 16, position 56,920,278. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC12A3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:56920278
Cytoband: 16q13
HGVS: NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)
Allele change: Missense_P642L

Associated conditions / phenotypes

Familial hypokalemia-hypomagnesemia|Familial hypokalemia-hypomagnesemia|Bartter syndrome

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.