G12E (p.Gly12Glu) variant of JPH2 (Junctophilin-2)
G12E (p.Gly12Glu) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy, dilated, 2E. The record also includes structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- rs2515765003
- ClinGen CA409095676
- ClinVar RCV003325442
- Uncertain significance
- Cardiomyopathy, dilated, 2E
- Missense
- ClinVar: Uncertain significance (Cardiomyopathy, dilated, 2E)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available