G435D (p.Gly435Asp) variant of COL3A1 (Collagen alpha-1(III) chain)
G435D (p.Gly435Asp) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome. The record also includes published literature and structural context.
G435D (p.Gly435Asp) variant details
- p.Gly435Asp
- rs2469129452
- ClinGen CA349851631
- ClinVar RCV002380919
- ClinVar RCV004785654
- Pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- Missense
- ClinVar: Pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Ehlers-)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)