rs2289292

This is a synonymous variant in the TBX6 gene — it does not change the protein's amino acid sequence.

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ClinVar annotation

Pathogenic★★★☆

7 submitters3 publications

Spondylocostal dysostosis 5 (SCDO5); not specified

About TBX6

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. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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