C1513G (p.Cys1513Gly) variant of FBN1 (Fibrillin-1)
C1513G (p.Cys1513Gly) 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 Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection. The record also includes variant effect predictions and published literature.
C1513G (p.Cys1513Gly) variant details
- p.Cys1513Gly
- rs112723282
- ClinGen CA269552303
- ClinVar RCV002340074
- ClinVar RCV003775914
- Pathogenic/Likely pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.01
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)