Variant (rsID / SNP)

rs12828016

rs12828016 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WNK1. Location: chromosome 12, position 998,365. Clinical significance in the table: Benign.

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Reference-table entries

WNK1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:998365
Cytoband: 12p13.33
HGVS: NM_018979.4(WNK1):c.5424G>T (p.Met1808Ile)
Allele change: Missense_M2060I

Associated conditions / phenotypes

Pseudohypoaldosteronism type 2C|Neuropathy, hereditary sensory and autonomic, type 2A|Neuropathy, hereditary sensory and autonomic, type 2A|Pseudohypoaldosteronism type 2C

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.