rs769502806
This variant is located in the DLG1 gene.
▶ClinVar annotation
About DLG1
This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. A multitude of transcript variants deriving from alternative splicing and the use of multiple alternate promoter have been observed, including some splice variants that may be specific to brain and other tissues. An upstream uORF may regulate translation at some splice variants of this gene. [provided by RefSeq, Sep 2018]
View all DLG1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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