I60R (p.Ile60Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
I60R (p.Ile60Arg) in COL1A1 (Collagen alpha-1(I) 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.
I60R (p.Ile60Arg) variant details
- p.Ile60Arg
- rs2509259051
- ClinGen CA2739268238
- ClinVar RCV003631869
- Pathogenic
- Frameshift
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)