Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs72650720

WNK1

rs72650720 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WNK1. Location: chromosome 12, position 992,649. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

WNK1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:992649
Cytoband
12p13.33
HGVS
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn)
Allele change
Missense_S1445N

Associated conditions / phenotypes

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

Public references

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