rs926578371

This variant is located in the SLC12A5 gene.

ClinVar annotation

Likely Benign☆☆☆
1 submitter1 publication

Developmental and epileptic encephalopathy, 34

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About SLC12A5

K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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