E30* (p.Glu30Ter) variant of FBN1 (Fibrillin-1)
E30* (p.Glu30Ter) 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.
E30* (p.Glu30Ter) variant details
- p.Glu30Ter
- rs2505822076
- ClinGen CA392453684
- ClinVar RCV002376063
- 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)