C1695W (p.Cys1695Trp) variant of FBN1 (Fibrillin-1)
C1695W (p.Cys1695Trp) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Diss.
C1695W (p.Cys1695Trp) variant details
- p.Cys1695Trp
- Ensembl rs113394552
- Likely pathogenic
- Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Diss
- Missense
- ClinVar: Likely pathogenic (Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic An)
- EBI: Likely benign
- UniProt: Likely benign