R276Q (p.Arg276Gln) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
R276Q (p.Arg276Gln) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Nonpapillary renal cell carcinoma; Renal cysts and diabetes syndrome; Type 2 dia. The record also includes published literature and structural context.
R276Q (p.Arg276Gln) variant details
- p.Arg276Gln
- rs2511802259
- ClinGen CA398747064
- ClinVar RCV000787134
- ClinVar RCV002535749
- Pathogenic/Likely pathogenic
- Nonpapillary renal cell carcinoma; Renal cysts and diabetes syndrome; Type 2 dia
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Nonpapillary renal cell carcinoma; Renal cysts and diabetes synd)
- EBI: Pathogenic (in RCAD)
- UniProt: Pathogenic (in RCAD)
- Structural context available
- Cited in: Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. (PMID 15930087)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)