Variant (rsID / SNP)

rs374163823

rs374163823 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC12A3. Location: chromosome 16, position 56,913,505. 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: 16:56913505
Cytoband: 16q13
HGVS: NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg)
Allele change: Missense_G462R

Associated conditions / phenotypes

Familial hypokalemia-hypomagnesemia

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.