D1930G (p.Asp1930Gly) variant of FBN1 (Fibrillin-1)
D1930G (p.Asp1930Gly) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Marfan syndrome; Familial thoracic aortic aneurysm and aortic diss. The record also includes published literature.
D1930G (p.Asp1930Gly) variant details
- p.Asp1930Gly
- rs2505455752
- ClinGen CA392340280
- ClinVar RCV002306195
- ClinVar RCV003099100
- Likely pathogenic
- not provided; Marfan syndrome; Familial thoracic aortic aneurysm and aortic diss
- Missense
- ClinVar: Likely pathogenic (not provided; Marfan syndrome; Familial thoracic aortic aneurysm)
- EBI: Likely pathogenic (found in a patient with Marfan-like syndrome)
- UniProt: Likely pathogenic (found in a patient with Marfan-like syndrome)
- 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)