FBN1 fibrillin 1

Gene info

Disease info

Animal model

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

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