rs774455945

This is a variant in the KCNN4 gene that changes a arginine to an histidine.

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ClinVar annotation

Pathogenic★★★☆
11 submitters9 publications

Dehydrated hereditary stomatocytosis 2 (DHS2)

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Research that mentions this SNP (1)

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Revised prevalence estimate of possible Hereditary Xerocytosis as derived from a large U.S. Laboratory database
ReviewKaufman HW et al.(2018)· American Journal of Hematology

This literature review of 73 articles published from 1971-2019 examines the clinical aspects of dehydrated hereditary stomatocytosis (DHSt), a congenital hemolytic disorder caused by gain-of-function mutations in PIEZO1 or KCNN4 genes. Despite well-compensated hemolysis, patients frequently develop iron overload, thrombotic complications after splenectomy, and perinatal fluid effusions, indicating the need for improved clinical management strategies.

Traits studied:Dehydrated hereditary stomatocytosisHemolytic anemiaHereditary xerocytosisIron overloadPerinatal hydrops fetalisRed blood cell dehydrationThrombosis
PubMedDOIMetascience Observatory

About KCNN4

The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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