G597E (p.Gly597Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
G597E (p.Gly597Glu) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Kniest dysplasia. The record also includes published literature and structural context.
G597E (p.Gly597Glu) variant details
- p.Gly597Glu
- rs2540144667
- ClinGen CA384550618
- ClinVar RCV002702595
- Pathogenic
- Kniest dysplasia
- Missense
- ClinVar: Pathogenic (Kniest dysplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)