S52R (p.Ser52Arg) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
S52R (p.Ser52Arg) 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. The record also includes structural context.
S52R (p.Ser52Arg) variant details
- p.Ser52Arg
- TOPMed rs1169046984
- gnomAD rs1169046984
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available