G472D (p.Gly472Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G472D (p.Gly472Asp) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Osteogenesis imperfecta, perinatal lethal. The record also includes structural context.
G472D (p.Gly472Asp) variant details
- p.Gly472Asp
- NCI-TCGA Cosmic COSV9980
- cosmic curated COSV99801
- Likely pathogenic
- Osteogenesis imperfecta, perinatal lethal
- Missense
- ClinVar: Likely pathogenic (Osteogenesis imperfecta, perinatal lethal)
- UniProt: Likely pathogenic
- Structural context available