D1891N (p.Asp1891Asn) variant of FBN1 (Fibrillin-1)
D1891N (p.Asp1891Asn) 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. The record also includes published literature.
D1891N (p.Asp1891Asn) variant details
- p.Asp1891Asn
- rs193922216
- ClinGen CA392341636
- ClinVar RCV001806338
- ClinVar RCV003772255
- Pathogenic/Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- 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)