Q18H (p.Gln18His) variant of JUP (Junction plakoglobin)
Q18H (p.Gln18His) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe. The record also includes published literature and structural context.
Q18H (p.Gln18His) variant details
- p.Gln18His
- rs2544217141
- ClinGen CA399507185
- ClinVar RCV002351651
- ClinVar RCV003776119
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe
- Missense
- ClinVar: Uncertain significance (Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)