G609E (p.Gly609Glu) variant of COL3A1 (Collagen alpha-1(III) chain)
G609E (p.Gly609Glu) 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 Ehlers-Danlos syndrome, type 4; not provided. The record also includes published literature and structural context.
G609E (p.Gly609Glu) variant details
- p.Gly609Glu
- rs2469138123
- ClinGen CA349853397
- ClinVar RCV003223067
- ClinVar RCV003633695
- Likely pathogenic
- Ehlers-Danlos syndrome, type 4; not provided
- Missense
- ClinVar: Likely pathogenic (Ehlers-Danlos syndrome, type 4; not provided)
- 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)