Q8* (p.Gln8Ter) variant of TSHR (Thyrotropin receptor)
Q8* (p.Gln8Ter) in TSHR (Thyrotropin receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q8* (p.Gln8Ter) variant details
- p.Gln8Ter
- rs1886625440
- ClinGen CA390770465
- ClinVar RCV003580598
- Ensembl rs1886625440
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available