I26M (p.Ile26Met) variant of JUP (Junction plakoglobin)
I26M (p.Ile26Met) 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; Cardiovascular phe. The record also includes published literature and structural context.
I26M (p.Ile26Met) variant details
- p.Ile26Met
- rs2544216620
- ClinGen CA399507088
- ClinVar RCV003181554
- ClinVar RCV005227922
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease; Cardiovascular phe
- Missense
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease; Ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)