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.
