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Variant (rsID / SNP)

rs72648621

WNK1

rs72648621 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WNK1. Location: chromosome 12, position 936,349. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

WNK1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:936349
Cytoband
12p13.33
HGVS
NM_018979.4(WNK1):c.1074C>T (p.Thr358=)
Allele change
Synonymous_T358T

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.