W71* (p.Trp71Ter) variant of FBN1 (Fibrillin-1)
W71* (p.Trp71Ter) 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.
W71* (p.Trp71Ter) variant details
- p.Trp71Ter
- rs2505779155
- ClinGen CA392448366
- ClinVar RCV003112313
- 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)