rs2494212282

This variant is located in the DEAF1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter1 publication

About DEAF1

This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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