S61* (p.Ser61Ter) variant of FBN1 (Fibrillin-1)
S61* (p.Ser61Ter) 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.
S61* (p.Ser61Ter) variant details
- p.Ser61Ter
- rs2505779274
- ClinGen CA392448499
- ClinVar RCV003187815
- ClinVar RCV003779584
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)