Y39* (p.Tyr39Ter) variant of COL3A1 (Collagen alpha-1(III) chain)
Y39* (p.Tyr39Ter) in COL3A1 (Collagen alpha-1(III) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
Y39* (p.Tyr39Ter) variant details
- p.Tyr39Ter
- rs2469105653
- ClinGen CA349846893
- ClinVar RCV002510237
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely 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)