rs11739136

This is a variant in the KCNMB1 gene that changes a glutamate to an lysine.

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ClinVar annotation

Benign
2 submitters2 publications

HYPERTENSION, DIASTOLIC, RESISTANCE TO; KCNMB1-related disorder

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About KCNMB1

MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the product of this gene, the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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