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Gene entry

EP300

EP300 lysine acetyltransferase

Chromosome
22
Cytoband
22q13.2
Variants (rsID)
19

EP300 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 22 (region 22q13.2). Its official name is “EP300 lysine acetyltransferase”. The reference table lists 19 variants (rsID) for this gene.

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Clinically classified variants

11 reference-table entries with clinical significance.

  • rs17002307Benignsingle nucleotide variantRubinstein-Taybi syndrome due to EP300 haploinsufficiency|Colorectal cancer
  • rs73176628Benignsingle nucleotide variantRubinstein-Taybi syndrome due to EP300 haploinsufficiency|Colorectal carcinoma
  • rs115849119Conflicting interpretationssingle nucleotide variantRubinstein-Taybi syndrome due to EP300 haploinsufficiency|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|Colorectal carcinoma
  • rs147583157Conflicting interpretationssingle nucleotide variant
  • rs150498069Conflicting interpretationssingle nucleotide variantColorectal cancer|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • rs78432056Conflicting interpretationssingle nucleotide variantRubinstein-Taybi syndrome due to EP300 haploinsufficiency|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|Colorectal carcinoma
  • rs1057517732Pathogenicsingle nucleotide variantRubinstein-Taybi syndrome due to EP300 haploinsufficiency|Multiple congenital anomalies|Inborn genetic diseases
  • rs1057521737Pathogenicsingle nucleotide variantRubinstein-Taybi syndrome due to EP300 haploinsufficiency|Colorectal carcinoma|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • rs139310551Pathogenicsingle nucleotide variantRubinstein-Taybi syndrome due to EP300 haploinsufficiency|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|Colorectal carcinoma
  • rs886041830Pathogenicsingle nucleotide variantRubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • rs148693910Uncertain significancesingle nucleotide variantRubinstein-Taybi syndrome due to EP300 haploinsufficiency

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.