G441R (p.Gly441Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
G441R (p.Gly441Arg) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome. The record also includes published literature and structural context.
G441R (p.Gly441Arg) variant details
- p.Gly441Arg
- rs2469129512
- ClinGen CA349851667
- ClinVar RCV002899010
- ClinVar RCV005542844
- Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- Missense
- ClinVar: Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Ehlers-)
- EBI: Likely pathogenic
- UniProt: Likely 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)