G54D (p.Gly54Asp) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
G54D (p.Gly54Asp) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases.
G54D (p.Gly54Asp) variant details
- p.Gly54Asp
- cosmic curated COSV65796
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- UniProt: Conflicting interpretations