G34D (p.Gly34Asp) variant of JPH2 (Junctophilin-2)
G34D (p.Gly34Asp) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
G34D (p.Gly34Asp) variant details
- p.Gly34Asp
- rs2515764734
- ClinGen CA409095532
- ClinVar RCV002362243
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available