C1265Y (p.Cys1265Tyr) variant of FBN1 (Fibrillin-1)
C1265Y (p.Cys1265Tyr) 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 variant effect predictions and published literature.
C1265Y (p.Cys1265Tyr) variant details
- p.Cys1265Tyr
- rs1555398279
- ClinGen CA392323791
- ClinVar RCV003064271
- ClinVar RCV003327304
- Pathogenic/Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. (PMID 18435798)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)