C2017Y (p.Cys2017Tyr) variant of FBN1 (Fibrillin-1)
C2017Y (p.Cys2017Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Isolated thoracic aortic aneurysm; Familial thoracic aortic aneurysm and aortic. The record also includes variant effect predictions and published literature.
C2017Y (p.Cys2017Tyr) variant details
- p.Cys2017Tyr
- rs2141245523
- ClinGen CA392338611
- ClinVar RCV001374841
- ClinVar RCV001880029
- Pathogenic/Likely pathogenic
- Isolated thoracic aortic aneurysm; Familial thoracic aortic aneurysm and aortic
- Missense
- MutPred 0.96
- ClinVar: Pathogenic/Likely pathogenic (Isolated thoracic aortic aneurysm; Familial thoracic aortic aneu)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)