C1905F (p.Cys1905Phe) variant of FBN1 (Fibrillin-1)
C1905F (p.Cys1905Phe) 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 Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection. The record also includes published literature.
C1905F (p.Cys1905Phe) variant details
- p.Cys1905Phe
- rs112655848
- ClinGen CA392341306
- ClinVar RCV003792875
- ClinVar RCV005567642
- Pathogenic/Likely pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Pathogenic
- UniProt: 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)