C832F (p.Cys832Phe) variant of FBN1 (Fibrillin-1)
C832F (p.Cys832Phe) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome; not pr. The record also includes published literature.
C832F (p.Cys832Phe) variant details
- p.Cys832Phe
- rs397515775
- ClinGen CA392334410
- ClinVar RCV001237693
- ClinVar RCV002430015
- Pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome; not pr
- Missense
- ClinVar: Pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- 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)