C1818R (p.Cys1818Arg) variant of FBN1 (Fibrillin-1)
C1818R (p.Cys1818Arg) 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. The record also includes published literature.
C1818R (p.Cys1818Arg) variant details
- p.Cys1818Arg
- rs2505470826
- ClinGen CA392344406
- ClinVar RCV002349674
- ClinVar RCV003235709
- 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 pathogenic
- UniProt: Likely 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)