rs538439492

This variant is located in the KCNT2 gene.

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ClinVar annotation

Likely Benign
1 submitter

KCNT2-related disorder

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About KCNT2

Enables chloride-activated potassium channel activity and intracellular sodium-activated potassium channel activity. Involved in potassium ion export across plasma membrane. Located in plasma membrane. Implicated in developmental and epileptic encephalopathy 57. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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