Q131* (p.Gln131Ter) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
Q131* (p.Gln131Ter) 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 published literature and structural context.
Q131* (p.Gln131Ter) variant details
- p.Gln131Ter
- rs2511829685
- ClinGen CA398751625
- ClinVar RCV000787220
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)