Q63R (p.Gln63Arg) variant of JUP (Junction plakoglobin)
Q63R (p.Gln63Arg) 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. The record also includes published literature and structural context.
Q63R (p.Gln63Arg) variant details
- p.Gln63Arg
- rs2544214580
- ClinGen CA399506615
- ClinVar RCV003791708
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- Missense
- ClinVar: Uncertain significance (Naxos disease; Arrhythmogenic right ventricular dysplasia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)