C1928R (p.Cys1928Arg) variant of FBN1 (Fibrillin-1)
C1928R (p.Cys1928Arg) 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.
C1928R (p.Cys1928Arg) variant details
- p.Cys1928Arg
- rs2043162224
- ClinGen CA16602236
- NCI-TCGA Cosmic COSV1003
- ClinVar RCV001202784
- Pathogenic/Likely pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- MutPred 0.98
- ClinVar: Pathogenic/Likely pathogenic (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. (PMID 7611299)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)