C1389Y (p.Cys1389Tyr) variant of FBN1 (Fibrillin-1)
C1389Y (p.Cys1389Tyr) 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 not provided; Marfan syndrome; Familial thoracic aortic aneurysm and aortic diss. The record also includes variant effect predictions and published literature.
C1389Y (p.Cys1389Tyr) variant details
- p.Cys1389Tyr
- rs1060501026
- ClinGen CA392320159
- ClinVar RCV001389340
- ClinVar RCV002246020
- Pathogenic/Likely pathogenic
- not provided; Marfan syndrome; Familial thoracic aortic aneurysm and aortic diss
- Missense
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (not provided; Marfan syndrome; Familial thoracic aortic aneurysm)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- 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)