NOTCH1 notch receptor 1

Gene info



Previous symbol


External ID

HGNC: 7881
Entrez Gene: 4851
Ensembl: ENSG00000148400
UCSC: uc004chz.4
OMIM: 190198
UniProtKB: P46531

Disease info

CHD Phenotype

  • Ventricular septal defect
  • Bicuspid aortic valve
  • Aortic stenosis
  • Coarctation of the aorta
  • Tetralogy of fallot
  • Hypoplastic left heart syndrome

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Heterozygous and homozygous knockout mice have CHD


Variant info


Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for NOTCH1: BED file

Genome browser powered by igv.js

Selected References

  1. Wessels, M., & Willems, P. (2010). Genetic factors in non-syndromic congenital heart malformations. Clinical Genetics, 78(2), 103–123. DOI:10.1111/j.1399-0004.2010.01435.x PMID:20497191
  2. McBride, K. L., Riley, M. F., Zender, G. A., Fitzgerald-Butt, S. M., Towbin, J. A., Belmont, J. W., & Cole, S. E. (2008). NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Human Molecular Genetics, 17(18), 2886–2893. DOI:10.1093/hmg/ddn187 PMID:18593716
  3. Garg, V., Muth, A. N., Ransom, J. F., Schluterman, M. K., Barnes, R., King, I. N., Grossfeld, P. D., & Srivastava, D. (2005). Mutations in NOTCH1 cause aortic valve disease. Nature, 437(7056), 270–274. DOI:10.1038/nature03940 PMID:16025100