T108N (p.Thr108Asn) variant of COL1A1 (Collagen alpha-1(I) chain)
T108N (p.Thr108Asn) 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.
T108N (p.Thr108Asn) variant details
- p.Thr108Asn
- rs2509256132
- ClinGen CA923726086
- ClinVar RCV002472216
- Pathogenic
- Frameshift
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)