C85* (p.Cys85Ter) variant of FBN1 (Fibrillin-1)
C85* (p.Cys85Ter) in FBN1 (Fibrillin-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.
C85* (p.Cys85Ter) variant details
- p.Cys85Ter
- rs1555405536
- ClinGen CA392447170
- ClinVar RCV000663555
- Ensembl rs1555405536
- Pathogenic
- Stop Gained
- 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)