A25V (p.Ala25Val) variant of FBN1 (Fibrillin-1)
A25V (p.Ala25Val) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- NCI-TCGA Cosmic COSV5732
- cosmic curated COSV57325
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- UniProt: Uncertain significance