Variant (rsID / SNP)

rs2286007

rs2286007 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WNK1. Location: chromosome 12, position 971,291. 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: 12:971291
Cytoband: 12p13.33
HGVS: NM_018979.4(WNK1):c.1994C>T (p.Thr665Ile)
Allele change: Missense_T665I

Associated conditions / phenotypes

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

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.