A88N (p.Ala88Asn) variant of JUP (Junction plakoglobin)
A88N (p.Ala88Asn) 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; not provided. The record also includes published literature and structural context.
A88N (p.Ala88Asn) variant details
- p.Ala88Asn
- rs1916297521
- ClinGen CA916081885
- ClinVar RCV001070361
- ClinVar RCV004761925
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12; not provided
- Missense
- ClinVar: Uncertain significance (Naxos disease; Arrhythmogenic right ventricular dysplasia 12; no)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)