C52* (p.Cys52Ter) variant of COL2A1 (Collagen alpha-1(II) chain)
C52* (p.Cys52Ter) in COL2A1 (Collagen alpha-1(II) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
C52* (p.Cys52Ter) variant details
- p.Cys52Ter
- rs1246771678
- ClinGen CA384526460
- ClinVar RCV000659383
- ClinVar RCV001387827
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: 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)