C792R (p.Cys792Arg) variant of FBN1 (Fibrillin-1)
C792R (p.Cys792Arg) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Marfan syndrome; Isolated thoracic aortic aneurysm. The record also includes variant effect predictions and published literature.
C792R (p.Cys792Arg) variant details
- p.Cys792Arg
- rs2141305039
- ClinGen CA392335385
- ClinVar RCV001374790
- ClinVar RCV003336361
- Likely pathogenic
- Marfan syndrome; Isolated thoracic aortic aneurysm
- Missense
- MutPred 0.99
- ClinVar: Likely pathogenic (Marfan syndrome; Isolated thoracic aortic aneurysm)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Recommendations for physical activity and recreational sports participation for young patients with genetic… (PMID 15184297)
- Cited in: Guidelines for the diagnosis and management of Marfan syndrome. (PMID 17188935)