G904E (p.Gly904Glu) variant of COL1A2 (Collagen alpha-2(I) chain)
G904E (p.Gly904Glu) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ehlers-Danlos syndrome, cardiac valvular type; Osteogenesis imperfecta, perinata. The record also includes published literature and structural context.
G904E (p.Gly904Glu) variant details
- p.Gly904Glu
- rs775246283
- ClinGen CA368224460
- NCI-TCGA Cosmic COSV9903
- ClinVar RCV001836673
- Likely pathogenic
- Ehlers-Danlos syndrome, cardiac valvular type; Osteogenesis imperfecta, perinata
- Missense
- ClinVar: Likely pathogenic (Ehlers-Danlos syndrome, cardiac valvular type; Osteogenesis impe)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)