K23R (p.Lys23Arg) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
K23R (p.Lys23Arg) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Nonpapillary renal cell carcinoma; Renal cysts and diabetes syndro. The record also includes published literature and structural context.
K23R (p.Lys23Arg) variant details
- p.Lys23Arg
- rs2511853122
- ClinGen CA398754786
- ClinVar RCV003661649
- ClinVar RCV005014821
- Uncertain significance
- not provided; Nonpapillary renal cell carcinoma; Renal cysts and diabetes syndro
- Missense
- ClinVar: Uncertain significance (not provided; Nonpapillary renal cell carcinoma; Renal cysts and)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)