C1672R (p.Cys1672Arg) variant of FBN1 (Fibrillin-1)
C1672R (p.Cys1672Arg) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Diss. The record also includes variant effect predictions and published literature.
C1672R (p.Cys1672Arg) variant details
- p.Cys1672Arg
- rs112930491
- ClinGen CA392349959
- ClinVar RCV002343114
- ClinVar RCV006693101
- Pathogenic
- Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Diss
- Missense
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- SIFT 0.00
- MutPred 0.96
- ClinVar: Pathogenic (Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic An)
- 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)