rs2304733

This variant is located in the TEAD1 gene.

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ClinVar annotation

Benign★★★☆

3 submitters2 publications

not provided; Helicoid peripapillary chorioretinal degeneration

About TEAD1

This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations in this gene cause Sveinsson's chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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