rs193272250

This variant is located in the ETS1 gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆

1 submitter2 publications

ETS1-related disorder

About ETS1

This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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