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Gene entry

NOTCH1

notch receptor 1

Chromosome
9
Cytoband
9q34.3
Variants (rsID)
40

NOTCH1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q34.3). Its official name is “notch receptor 1”. The reference table lists 40 variants (rsID) for this gene.

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Clinically classified variants

23 reference-table entries with clinical significance.

  • rs183156491Benignsingle nucleotide variantCardiovascular phenotype|Connective tissue disorder|Adams-Oliver syndrome 5|Familial thoracic aortic aneurysm and aortic dissection|Aortic valve disease 1
  • rs2229974Benignsingle nucleotide variantAortic valve disease 1|Cardiovascular phenotype|Adams-Oliver syndrome 5
  • rs3124603Benignsingle nucleotide variantAortic valve disease 1|Adams-Oliver syndrome 5
  • rs35136134Benignsingle nucleotide variantAdams-Oliver syndrome 5|Cardiovascular phenotype|Connective tissue disorder|Familial thoracic aortic aneurysm and aortic dissection|Aortic valve disease 1
  • rs61751543Benignsingle nucleotide variantAdams-Oliver syndrome 5|Cardiovascular phenotype|Hypoplastic left heart syndrome|Aortic valve disease 1
  • rs76371972Benignsingle nucleotide variantAdams-Oliver syndrome 5|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Aortic valve disease 1
  • rs150343794Conflicting interpretationssingle nucleotide variantAdams-Oliver syndrome 5|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Connective tissue disorder
  • rs182330532Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Adams-Oliver syndrome 5|Familial thoracic aortic aneurysm and aortic dissection
  • rs201620358Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Aortic valve disease 1|Connective tissue disorder|Aortic valve disease 1|Adams-Oliver syndrome 5|Adams-Oliver syndrome 5
  • rs202065858Conflicting interpretationssingle nucleotide variantAdams-Oliver syndrome 5|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection
  • rs202133782Conflicting interpretationssingle nucleotide variantAdams-Oliver syndrome 5|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection
  • rs545088400Conflicting interpretationssingle nucleotide variantAdams-Oliver syndrome 5
  • rs559917218Conflicting interpretationssingle nucleotide variantInborn genetic diseases|Adams-Oliver syndrome 5|Bicuspid aortic valve
  • rs76473337Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Adams-Oliver syndrome 5
  • rs138504021Likely benignsingle nucleotide variantAdams-Oliver syndrome 5|Cardiovascular phenotype|Connective tissue disorder|Familial thoracic aortic aneurysm and aortic dissection|Aortic valve disease 1
  • rs201493851Likely benignsingle nucleotide variantAdams-Oliver syndrome 5
  • rs864622057Likely pathogenicsingle nucleotide variantAdams-Oliver syndrome 5
  • rs864622060Likely pathogenicsingle nucleotide variantAdams-Oliver syndrome 5
  • rs864622056Pathogenicsingle nucleotide variantAdams-Oliver syndrome 5
  • rs864622059PathogenicDuplicationAdams-Oliver syndrome 5
  • rs864622061PathogenicDuplicationAdams-Oliver syndrome 5
  • rs201518848Uncertain significancesingle nucleotide variantAdams-Oliver syndrome 5|Aortic valve disease 1|Adams-Oliver syndrome 5|Aortic valve disorder
  • rs367838230Uncertain significancesingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Adams-Oliver syndrome 5|Aortic valve disease 1

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.