G55* (p.Gly55Ter) variant of FBN1 (Fibrillin-1)
G55* (p.Gly55Ter) in FBN1 (Fibrillin-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MFS. The record also includes variant effect predictions and published literature.
G55* (p.Gly55Ter) variant details
- p.Gly55Ter
- rs1566944812
- ClinGen CA392453406
- ClinVar RCV000756145
- ClinVar RCV005831663
- Pathogenic
- in MFS
- Stop Gained
- AlphaMissense 0.92
- SIFT 0.00
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- 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)