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Gene entry

TBX6

T-box transcription factor 6

Chromosome
16
Cytoband
16p11.2
Variants (rsID)
6

TBX6 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p11.2). Its official name is “T-box transcription factor 6”. The reference table lists 6 variants (rsID) for this gene.

Clinically classified variants

3 reference-table entries with clinical significance.

  • rs3809627Conflicting interpretationssingle nucleotide variantSpondylocostal dysostosis 5
  • rs786204039PathogenicDuplicationSpondylocostal dysostosis 5
  • rs786204040PathogenicDuplicationSpondylocostal dysostosis 5

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.