C1853R (p.Cys1853Arg) variant of FBN1 (Fibrillin-1)
C1853R (p.Cys1853Arg) 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 Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome; not pr. The record also includes variant effect predictions and published literature.
C1853R (p.Cys1853Arg) variant details
- p.Cys1853Arg
- rs1555395990
- ClinGen CA392342536
- ClinVar RCV001571331
- ClinVar RCV001866030
- Pathogenic/Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome; not pr
- Missense
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- 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)