C33F (p.Cys33Phe) variant of JUP (Junction plakoglobin)
C33F (p.Cys33Phe) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 12; Naxos disease. The record also includes published literature and structural context.
C33F (p.Cys33Phe) variant details
- p.Cys33Phe
- rs2544216232
- ClinGen CA399507009
- ClinVar RCV003802373
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- Missense
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)