G70D (p.Gly70Asp) variant of JUP (Junction plakoglobin)
G70D (p.Gly70Asp) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Naxos disease; Arrhythmogenic right ventricular dysplasia 12. The record also includes structural context.
G70D (p.Gly70Asp) variant details
- p.Gly70Asp
- cosmic curated COSV10512
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- Missense
- ClinVar: Uncertain significance (Naxos disease; Arrhythmogenic right ventricular dysplasia 12)
- UniProt: Uncertain significance
- Structural context available