C862S (p.Cys862Ser) variant of FBN1 (Fibrillin-1)
C862S (p.Cys862Ser) 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 variant effect predictions and published literature.
C862S (p.Cys862Ser) variant details
- p.Cys862Ser
- rs2043595650
- ClinGen CA392332715
- ClinVar RCV001866986
- Ensembl rs2043595650
- Likely pathogenic
- Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Diss
- Missense
- MutPred 0.99
- ClinVar: Likely pathogenic (Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic An)
- 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)