C1905S (p.Cys1905Ser) variant of FBN1 (Fibrillin-1)
C1905S (p.Cys1905Ser) 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/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Diss. The record also includes variant effect predictions and published literature.
C1905S (p.Cys1905Ser) variant details
- p.Cys1905Ser
- rs112655848
- ClinGen CA269533790
- ClinVar RCV002246039
- ClinVar RCV006690979
- Pathogenic/Likely pathogenic
- Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Diss
- Missense
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic An)
- EBI: Pathogenic
- UniProt: 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)