rs201793266
This variant is located in the TBX2 gene.
▶ClinVar annotation
not specified; Vertebral anomalies and variable endocrine and T-cell dysfunction
View on ClinVar →About TBX2
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]
View all TBX2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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