G328S (p.Gly328Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G328S (p.Gly328Ser) 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 with normal sclerae, dominant form; Ehlers-Danlos syndro. The record also includes published literature and structural context.
G328S (p.Gly328Ser) variant details
- p.Gly328Ser
- rs66612022
- ClinGen CA162920322
- NCI-TCGA Cosmic COSV5195
- cosmic curated COSV51956
- Pathogenic
- Osteogenesis imperfecta with normal sclerae, dominant form; Ehlers-Danlos syndro
- Missense
- ClinVar: Pathogenic (Osteogenesis imperfecta with normal sclerae, dominant form; Ehle)
- EBI: Pathogenic (in OI1, OI3 and OI4)
- UniProt: Pathogenic (in OI1, OI3 and OI4)
- Structural context available
- Cited in: Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. (PMID 16705691)
- Cited in: A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. (PMID 7860070)