rs201430049
This variant is located in the KCNN4 gene.
▶ClinVar annotation
Dehydrated hereditary stomatocytosis 2
View on ClinVar →▶Research that mentions this SNP (1)
▶AssociationN=189Unknown
Targeted exome sequencing of 63 Chinese families with childhood epilepsy of unknown etiology identified pathogenic and likely pathogenic variants in 15 of 63 (23.8%) families. Pathogenic variants were found in known epilepsy genes including SCN1A, CDKL5, STXBP1, CHD2, SCN3A, SCN9A, TSC2, MBD5, POLG, and EFHC1. Novel likely pathogenic variants were also identified in candidate genes GABRE, MYH1, and CLCN6.
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]
View all KCNN4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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