rs1060499735

This is a variant in the CPLX1 gene that changes a glutamate to an glutamine.

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ClinVar annotation

Uncertain Significance★☆☆☆
3 submitters2 publications

Abnormal brain morphology; 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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