rs886042929

This variant is located in the NLGN4X gene.

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ClinVar annotation

Uncertain Significance★★★☆

3 submitters9 publications

not provided; Asperger syndrome, X-linked, susceptibility to, 2;Autism, susceptibility to, X-linked 2

About NLGN4X

This gene encodes a member of the type-B carboxylesterase/lipase protein family. The encoded protein belongs to a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs large homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

View all NLGN4X variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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