rs1064796669

This is a stop gained variant in the EBF3 gene.

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ClinVar annotation

Pathogenic★★★☆
5 submitters3 publications

Hypotonia, ataxia, and delayed development syndrome (HADDS); Inborn genetic diseases

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About EBF3

This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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