Variant (rsID / SNP)

rs118121751

rs118121751 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC12A3. Location: chromosome 16, position 56,913,510. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC12A3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:56913510
Cytoband: 16q13
HGVS: NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=)
Allele change: Synonymous_A463A

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.