Q136* (p.Gln136Ter) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
Q136* (p.Gln136Ter) in HNF1B (Hepatocyte nuclear factor 1-beta) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in RCAD. The record also includes published literature and structural context.
Q136* (p.Gln136Ter) variant details
- p.Gln136Ter
- rs2511829513
- ClinGen CA398751565
- ClinVar RCV000787214
- ClinVar RCV002535750
- Pathogenic
- in RCAD
- Stop Gained
- EBI: Pathogenic (in RCAD)
- UniProt: Pathogenic (in RCAD)
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)