R276G (p.Arg276Gly) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
R276G (p.Arg276Gly) 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 Renal cysts and diabetes syndrome; HNF1B-related disorder. The record also includes published literature and structural context.
R276G (p.Arg276Gly) variant details
- p.Arg276Gly
- rs121918672
- ClinGen CA398747072
- ClinVar RCV000787133
- ClinVar RCV003411728
- Pathogenic/Likely pathogenic
- Renal cysts and diabetes syndrome; HNF1B-related disorder
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Renal cysts and diabetes syndrome; HNF1B-related disorder)
- EBI: Pathogenic (in RCAD)
- UniProt: Pathogenic (in RCAD)
- Structural context available
- Cited in: Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of… (PMID 16249435)
- Cited in: Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. (PMID 24204001)