G40E (p.Gly40Glu) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
G40E (p.Gly40Glu) 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 HNF1B-related disorder. The record also includes structural context.
G40E (p.Gly40Glu) variant details
- p.Gly40Glu
- rs2511852471
- ClinGen CA398754435
- ClinVar RCV003894414
- Uncertain significance
- HNF1B-related disorder
- Missense
- ClinVar: Uncertain significance (HNF1B-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available