rs751956855

This variant is located in the DLGAP2 gene.

ClinVar annotation

Uncertain Significance
1 submitter

DLGAP2-related disorder

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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