W45* (p.Trp45Ter) variant of COL3A1 (Collagen alpha-1(III) chain)
W45* (p.Trp45Ter) in COL3A1 (Collagen alpha-1(III) 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.
W45* (p.Trp45Ter) variant details
- p.Trp45Ter
- rs1559052609
- ClinGen CA349846946
- ClinVar RCV000697608
- Ensembl rs1559052609
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)