E726G (p.Glu726Gly) variant of FBN1 (Fibrillin-1)
E726G (p.Glu726Gly) 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; not pr. The record also includes published literature.
E726G (p.Glu726Gly) variant details
- p.Glu726Gly
- rs2505576546
- ClinGen CA392335897
- ClinVar RCV003783664
- ClinVar RCV004697312
- Pathogenic/Likely pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; not pr
- 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)