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Gene entry

CREBBP

CREB binding lysine acetyltransferase

Chromosome
16
Cytoband
16p13.3
Variants (rsID)
36

CREBBP is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p13.3). Its official name is “CREB binding lysine acetyltransferase”. The reference table lists 36 variants (rsID) for this gene.

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Clinically classified variants

14 reference-table entries with clinical significance.

  • rs130003Benignsingle nucleotide variantRubinstein-Taybi syndrome|History of neurodevelopmental disorder
  • rs141982003Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Rubinstein-Taybi syndrome
  • rs145733598Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Rubinstein-Taybi syndrome
  • rs55790011Benignsingle nucleotide variantRubinstein-Taybi syndrome
  • rs55916120Benignsingle nucleotide variantRubinstein-Taybi syndrome|History of neurodevelopmental disorder
  • rs376814421Conflicting interpretationssingle nucleotide variantRubinstein-Taybi syndrome
  • rs398124146Conflicting interpretationssingle nucleotide variantHepatocellular carcinoma|Squamous cell carcinoma of the head and neck|Medulloblastoma|Squamous cell lung carcinoma|Malignant melanoma of skin|Neoplasm of uterine cervix|Neoplasm of the large intestine|Gastric adenocarcinoma|Glioblastoma|Adenoid cystic carcinoma|Transitional cell carcinoma of the bladder|Rubinstein-Taybi syndrome due to CREBBP mutations|Rubinstein-Taybi syndrome
  • rs546554430Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Rubinstein-Taybi syndrome
  • rs61759495Conflicting interpretationssingle nucleotide variantRubinstein-Taybi syndrome due to CREBBP mutations|History of neurodevelopmental disorder|Rubinstein-Taybi syndrome
  • rs149961222Likely benignsingle nucleotide variantHistory of neurodevelopmental disorder
  • rs11644721Pathogenicsingle nucleotide variantRubinstein-Taybi syndrome due to CREBBP mutations
  • rs147688139Pathogenicsingle nucleotide variantRubinstein-Taybi syndrome due to CREBBP mutations
  • rs200782888Pathogenicsingle nucleotide variantRubinstein-Taybi syndrome due to CREBBP mutations|Rubinstein-Taybi syndrome
  • rs267606752Pathogenicsingle nucleotide variantRubinstein-Taybi syndrome due to CREBBP mutations|Intellectual disability|Inborn genetic diseases|Abnormality of the nervous system

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.