C890G (p.Cys890Gly) variant of FBN1 (Fibrillin-1)
C890G (p.Cys890Gly) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Isolated thoracic aortic aneurysm. The record also includes published literature.
C890G (p.Cys890Gly) variant details
- p.Cys890Gly
- rs1555399145
- ClinGen CA392331945
- ClinVar RCV001374787
- UniProt VAR 023872
- Likely pathogenic
- Isolated thoracic aortic aneurysm
- Missense
- ClinVar: Likely pathogenic (Isolated thoracic aortic aneurysm)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome… (PMID 16222657)
- Cited in: Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. (PMID 10425041)