Q43* (p.Gln43Ter) variant of TGFB2 (P61812)
Q43* (p.Gln43Ter) in TGFB2 (P61812) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q43* (p.Gln43Ter) variant details
- p.Gln43Ter
- rs2464549208
- ClinGen CA344725346
- ClinVar RCV002471415
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)