E78A (p.Glu78Ala) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E78A (p.Glu78Ala) 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.
E78A (p.Glu78Ala) variant details
- p.Glu78Ala
- rs2511850894
- ClinGen CA398753644
- ClinVar RCV003442740
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available