Q9* (p.Gln9Ter) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
Q9* (p.Gln9Ter) in HNF1B (Hepatocyte nuclear factor 1-beta) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q9* (p.Gln9Ter) variant details
- p.Gln9Ter
- rs2511853625
- ClinGen CA398755209
- ClinVar RCV003073271
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available