rs143620327

This variant is located in the DLGAP2 gene.

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ClinVar annotation

Likely Benign

1 submitter

DLGAP2-related disorder

About DLGAP2

The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2014]

View all DLGAP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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