rs1553851860

This variant is located in the CPLX1 gene.

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ClinVar annotation

Pathogenic★★★☆
3 submitters2 publications

Developmental and epileptic encephalopathy, 63

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About CPLX1

Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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