FBN1 fibrillin 1

Gene info



Previous symbol


External ID

HGNC: 3603
Entrez Gene: 2200
Ensembl: ENSG00000166147
UCSC: uc001zwx.3
OMIM: 134797
UniProtKB: P35555

Disease info

CHD Phenotype

  • Aortic stenosis
  • Tricuspid stenosis

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 FBN1: BED file

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Selected References

  1. Le Goff, C., Mahaut, C., Wang, L. W., Allali, S., Abhyankar, A., Jensen, S., Zylberberg, L., Collod-Beroud, G., Bonnet, D., Alanay, Y., Brady, A. F., Cordier, M.-P., Devriendt, K., Genevieve, D., Kiper, P. Ö. S., Kitoh, H., Krakow, D., Lynch, S. A., Le Merrer, M., … Cormier-Daire, V. (2011). Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias. The American Journal of Human Genetics, 89(1), 7–14. https://doi.org/10.1016/j.ajhg.2011.05.012 DOI:10.1016/j.ajhg.2011.05.012 PMID:21683322
  2. Wang, W.-J., Han, P., Zheng, J., Hu, F.-Y., Zhu, Y., Xie, J.-S., Guo, J., Zhang, Z., Dong, J., Zheng, G.-Y., Cao, H., Liu, T.-S., Fu, Q., Sun, L., Yang, B.-B., & Tian, X.-L. (2012). Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. Journal of Molecular Medicine, 91(1), 37–47. https://doi.org/10.1007/s00109-012-0931-y DOI:10.1007/s00109-012-0931-y PMID:22772377