R86G (p.Arg86Gly) variant of FBN1 (Fibrillin-1)
R86G (p.Arg86Gly) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.
R86G (p.Arg86Gly) variant details
- p.Arg86Gly
- rs2505775850
- ClinGen CA2580089569
- ClinVar RCV002889789
- Pathogenic
- Missense
- 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)