C68L (p.Cys68Leu) variant of FBN1 (Fibrillin-1)
C68L (p.Cys68Leu) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ECTOL1. The record also includes published literature.
C68L (p.Cys68Leu) variant details
- p.Cys68Leu
- rs2505779226
- ClinGen CA2580089589
- ClinVar RCV002811517
- Pathogenic
- in ECTOL1
- Missense
- EBI: Pathogenic (in ECTOL1)
- UniProt: Pathogenic (in ECTOL1)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)