C926R (p.Cys926Arg) variant of FBN1 (Fibrillin-1)
C926R (p.Cys926Arg) 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; Familial thoracic aortic aneurysm and aortic dissection. The record also includes variant effect predictions and published literature.
C926R (p.Cys926Arg) variant details
- p.Cys926Arg
- rs2141300401
- ClinGen CA16602233
- ClinVar RCV001389463
- ClinVar RCV002246021
- Pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- MutPred 0.99
- ClinVar: Pathogenic (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. (PMID 15161917)
- Cited in: Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. (PMID 7611299)