G1005A (p.Gly1005Ala) variant of COL3A1 (Collagen alpha-1(III) chain)
G1005A (p.Gly1005Ala) 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 aortopathy; not provided; Ehlers-Danlos syndrome, type 4. The record also includes published literature and structural context.
G1005A (p.Gly1005Ala) variant details
- p.Gly1005Ala
- rs2469156496
- ClinGen CA349844829
- ClinVar RCV003524644
- ClinVar RCV004765903
- Likely pathogenic
- Familial aortopathy; not provided; Ehlers-Danlos syndrome, type 4
- Missense
- ClinVar: Likely pathogenic (Familial aortopathy; not provided; Ehlers-Danlos syndrome, type)
- 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)