Variant (rsID / SNP)

rs34819316

rs34819316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC12A1. Location: chromosome 15, position 48,500,263. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC12A1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:48500263
Cytoband: 15q21.1
HGVS: NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)
Allele change: Missense_R116H

Associated conditions / phenotypes

Bartter disease type 1

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.