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Gene entry

TCF4

transcription factor 4

Chromosome
18
Cytoband
18q21.2
Variants (rsID)
67

TCF4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 18 (region 18q21.2). Its official name is “transcription factor 4”. The reference table lists 67 variants (rsID) for this gene.

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Clinically classified variants

9 reference-table entries with clinical significance.

  • rs1788027Benignsingle nucleotide variantCorneal dystrophy, Fuchs endothelial, 3|Pitt-Hopkins syndrome
  • rs148909575Conflicting interpretationssingle nucleotide variant
  • rs373434281Conflicting interpretationssingle nucleotide variantPitt-Hopkins syndrome
  • rs749176054Conflicting interpretationssingle nucleotide variantIntellectual disability|Pitt-Hopkins syndrome
  • rs121909120Pathogenicsingle nucleotide variantPitt-Hopkins syndrome|Severe intellectual deficiency|Inborn genetic diseases
  • rs121909121Pathogenicsingle nucleotide variantPitt-Hopkins syndrome
  • rs121909122Pathogenicsingle nucleotide variantPitt-Hopkins syndrome|Corneal dystrophy, Fuchs endothelial, 3|Pitt-Hopkins syndrome
  • rs121909123Pathogenicsingle nucleotide variantPitt-Hopkins syndrome
  • rs587784464Pathogenicsingle nucleotide variantPitt-Hopkins 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.