G694D (p.Gly694Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G694D (p.Gly694Asp) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type. The record also includes published literature and structural context.
G694D (p.Gly694Asp) variant details
- p.Gly694Asp
- rs2484725181
- NCI-TCGA Cosmic COSV5195
- cosmic curated COSV51956
- ClinGen CA368223209
- Pathogenic
- Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type
- Missense
- ClinVar: Pathogenic (Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)