R3* (p.Arg3Ter) variant of FBN1 (Fibrillin-1)
R3* (p.Arg3Ter) 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.
R3* (p.Arg3Ter) variant details
- p.Arg3Ter
- rs886038797
- ClinGen CA10587869
- cosmic curated COSV57323
- ClinVar RCV000246054
- 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)