rs377389684

This variant is located in the TFAP4 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About TFAP4

Transcription factors of the basic helix-loop-helix-zipper (bHLH-ZIP) family contain a basic domain, which is used for DNA binding, and HLH and ZIP domains, which are used for oligomerization. Transcription factor AP4 activates both viral and cellular genes by binding to the symmetrical DNA sequence CAGCTG (Mermod et al., 1988 [PubMed 2833704]; Hu et al., 1990 [PubMed 2123466]).[supplied by OMIM, Jul 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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