rs371709824

This is a variant in the CPLX1 gene that changes a leucine to an methionine.

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ClinVar annotation

Pathogenic★☆☆☆
5 submitters3 publications

4p partial monosomy syndrome (WHS); 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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