C1307Y (p.Cys1307Tyr) variant of FBN1 (Fibrillin-1)
C1307Y (p.Cys1307Tyr) 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; not pr. The record also includes published literature.
C1307Y (p.Cys1307Tyr) variant details
- p.Cys1307Tyr
- UniProt VAR 076061
- Pathogenic/Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome; not pr
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. (PMID 17657824)
- Cited in: Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. (PMID 10425041)