D26H (p.Asp26His) variant of FBN1 (Fibrillin-1)
D26H (p.Asp26His) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Marfan syndrome; Familial thoracic aortic aneurysm and aortic dis. The record also includes variant effect predictions, population frequency data, and published literature.
D26H (p.Asp26His) variant details
- p.Asp26His
- rs146267697
- ClinGen CA059038
- ClinVar RCV001183094
- ClinVar RCV001315149
- Conflicting interpretations
- not specified; Marfan syndrome; Familial thoracic aortic aneurysm and aortic dis
- Missense
- REVEL 0.16
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (not specified; Marfan syndrome; Familial thoracic aortic aneurys)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- 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)