D1406G (p.Asp1406Gly) variant of FBN1 (Fibrillin-1)
D1406G (p.Asp1406Gly) 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.
D1406G (p.Asp1406Gly) variant details
- p.Asp1406Gly
- rs2043386794
- ClinGen CA392318140
- ClinVar RCV001249769
- ClinVar RCV001879762
- Pathogenic/Likely pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- AlphaMissense 0.92
- MetaLR 0.95
- MetaSVM 1.10
- SIFT 0.00
- MutPred 0.91
- ClinVar: Pathogenic/Likely pathogenic (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Pathogenic (found in a patient with Marfan-like syndrome)
- UniProt: Pathogenic (found in a patient with Marfan-like syndrome)
- Cited in: The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. (PMID 17657824)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)