E81* (p.Glu81Ter) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E81* (p.Glu81Ter) 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.
E81* (p.Glu81Ter) variant details
- p.Glu81Ter
- rs2034113963
- ClinGen CA398753594
- ClinVar RCV001262003
- ClinVar RCV002465859
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)