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Gene entry

TBX5

T-box transcription factor 5

Chromosome
12
Cytoband
12q24.21
Variants (rsID)
39

TBX5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q24.21). Its official name is “T-box transcription factor 5”. The reference table lists 39 variants (rsID) for this gene.

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Clinically classified variants

11 reference-table entries with clinical significance.

  • rs114124210Benignsingle nucleotide variantCardiovascular phenotype|Aortic valve disease 2
  • rs2236017Benignsingle nucleotide variantHolt-Oram syndrome
  • rs6489956Benignsingle nucleotide variantHolt-Oram syndrome
  • rs77357563Benignsingle nucleotide variantCardiovascular phenotype|Holt-Oram syndrome|Aortic valve disease 2
  • rs883079Benignsingle nucleotide variantHolt-Oram syndrome
  • rs147405081Conflicting interpretationssingle nucleotide variantHolt-Oram syndrome|Cardiovascular phenotype|Aortic valve disease 2
  • rs200461617Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Holt-Oram syndrome|Aortic valve disease 2
  • rs104894378Pathogenicsingle nucleotide variantHolt-Oram syndrome|Aortic valve disease 2
  • rs104894382Pathogenicsingle nucleotide variantHolt-Oram syndrome|Heart, malformation of|Aortic valve disease 2
  • rs1057520136PathogenicDeletionAortic valve disease 2
  • rs863223788Pathogenicsingle nucleotide variantAortic valve disease 2|Holt-Oram syndrome

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.