C734S (p.Cys734Ser) variant of FBN1 (Fibrillin-1)
C734S (p.Cys734Ser) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection.
C734S (p.Cys734Ser) variant details
- p.Cys734Ser
- rs794728187
- ClinGen CA392335782
- ClinVar RCV001374795
- Ensembl rs794728187
- Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- ClinVar: Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)