G891R (p.Gly891Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
G891R (p.Gly891Arg) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Ehlers-Danlos syndrome, type 4. The record also includes published literature and structural context.
G891R (p.Gly891Arg) variant details
- p.Gly891Arg
- rs2469153261
- ClinGen CA349843697
- ClinVar RCV003321445
- ClinVar RCV003523157
- Pathogenic/Likely pathogenic
- not provided; Ehlers-Danlos syndrome, type 4
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Ehlers-Danlos syndrome, type 4)
- 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)