Variant (rsID / SNP)

rs72647373

rs72647373 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WNK1. Location: chromosome 12, position 863,408. Clinical significance in the table: Likely benign.

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Reference-table entries

WNK1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:863408
Cytoband: 12p13.33
HGVS: NM_018979.4(WNK1):c.677A>T (p.Glu226Val)
Allele change: Missense_E226V

Associated conditions / phenotypes

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.