rs1939524099

This variant is located in the WNK1 gene.

▶

ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

Inborn genetic diseases; Pseudohypoaldosteronism type 2C;Neuropathy, hereditary sensory and autonomic, type 2A

About WNK1

This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]

View all WNK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…