rs2518079856

This variant is located in the TCF20 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

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About TCF20

This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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