rs370377460

This variant is located in the CNTN2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
2 submitters3 publications

Epilepsy, familial adult myoclonic, 5; CNTN2-related disorder

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About CNTN2

This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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