rs2548003999

This variant is located in the KCNMA1 gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Generalized epilepsy-paroxysmal dyskinesia syndrome

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About KCNMA1

This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release and neuronal excitability. Mutations in this gene are associated with a spectrum of neurological disorders including Paroxysmal Nonkinesigenic Dyskinesia 3, Idiopathic Generalized Epilepsy 16 and Liang-Wang syndrome. [provided by RefSeq, Aug 2022]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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