G60V (p.Gly60Val) variant of FBN1 (Fibrillin-1)
G60V (p.Gly60Val) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection.
G60V (p.Gly60Val) variant details
- p.Gly60Val
- ESP rs139788702
- ExAC rs139788702
- gnomAD rs139788702
- Uncertain significance
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- ClinVar: Uncertain significance (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- UniProt: Uncertain significance