NF1 neurofibromin 1

Gene info



Previous symbol


External ID

HGNC: 7765
Entrez Gene: 4763
Ensembl: ENSG00000196712
UCSC: uc002hgh.3
OMIM: 613113
UniProtKB: P21359

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Pulmonic stenosis
  • Coarctation of the aorta

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Homozygous knockout mouse has 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 NF1: BED file

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Selected References

  1. De Luca, A., Bottillo, I., Sarkozy, A., Carta, C., Neri, C., Bellacchio, E., Schirinzi, A., Conti, E., Zampino, G., Battaglia, A., Majore, S., Rinaldi, M. M., Carella, M., Marino, B., Pizzuti, A., Digilio, M. C., Tartaglia, M., & Dallapiccola, B. (2005). NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome. The American Journal of Human Genetics, 77(6), 1092–1101. DOI:10.1086/498454 PMID:16380919
  2. Baralle, D., Mattocks, C., Kalidas, K., Elmslie, F., Whittaker, J., Lees, M., Ragge, N., Patton, M. A., Winter, R. M., & ffrench-Constant, C. (2003). Different mutations in theNF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). American Journal of Medical Genetics, 119A(1), 1–8. DOI:10.1002/ajmg.a.20023 PMID:12707950
  3. Nyström, A., Ekvall, S., Allanson, J., Edeby, C., Elinder, M., Holmström, G., Bondeson, M., & Annerén, G. (2009). Noonan syndrome and neurofibromatosis type I in a family with a novel mutation inNF1. Clinical Genetics, 76(6), 524–534. DOI:10.1111/j.1399-0004.2009.01233.x PMID:19845691