D29Y (p.Asp29Tyr) variant of GCK (Hexokinase-4)
D29Y (p.Asp29Tyr) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Maturity-onset diabetes of the young type 2. The record also includes structural context.
D29Y (p.Asp29Tyr) variant details
- p.Asp29Tyr
- rs2484540304
- ClinGen CA367403666
- ClinVar RCV002475242
- Conflicting interpretations
- not provided; Maturity-onset diabetes of the young type 2
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided; Maturity-onset diabetes of the young type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available