C85Y (p.Cys85Tyr) variant of FBN1 (Fibrillin-1)
C85Y (p.Cys85Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection; Marfan sy. The record also includes published literature.
C85Y (p.Cys85Tyr) variant details
- p.Cys85Tyr
- rs2505775858
- ClinGen CA392447177
- ClinVar RCV003783680
- ClinVar RCV005230566
- Pathogenic
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Marfan sy
- Missense
- ClinVar: Pathogenic (not provided; Familial thoracic aortic aneurysm and aortic disse)
- 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)