Gene entry
JUP
junction plakoglobin
- Chromosome
- 17
- Cytoband
- 17q21.2
- Variants (rsID)
- 31
JUP is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q21.2). Its official name is “junction plakoglobin”. The reference table lists 31 variants (rsID) for this gene.
Clinically classified variants
20 reference-table entries with clinical significance.
- rs144171604Benignsingle nucleotide variantCardiovascular phenotype|Naxos disease|Arrhythmogenic right ventricular dysplasia 12|Primary dilated cardiomyopathy|Cardiomyopathy
- rs41283425Benignsingle nucleotide variantCardiovascular phenotype|Naxos disease|Arrhythmogenic right ventricular dysplasia 12|Naxos disease|Arrhythmogenic right ventricular dysplasia 12
- rs140002183Conflicting interpretationsDeletionNaxos disease|Arrhythmogenic right ventricular cardiomyopathy|Naxos disease|Arrhythmogenic right ventricular dysplasia 12
- rs142095597Conflicting interpretationssingle nucleotide variantNaxos disease|Arrhythmogenic right ventricular dysplasia 12|Cardiovascular phenotype
- rs149926974Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 12|Naxos disease|Cardiovascular phenotype|Naxos disease|Arrhythmogenic right ventricular dysplasia 12|Cardiomyopathy
- rs150194093Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Naxos disease|Arrhythmogenic right ventricular dysplasia 12|Naxos disease|Arrhythmogenic right ventricular dysplasia 12
- rs193922705Conflicting interpretationssingle nucleotide variantNaxos disease|Arrhythmogenic right ventricular cardiomyopathy|Naxos disease|Arrhythmogenic right ventricular dysplasia 12|Arrhythmogenic right ventricular dysplasia 12|Cardiomyopathy|Cardiac arrhythmia
- rs199935213Conflicting interpretationssingle nucleotide variantNaxos disease|Arrhythmogenic right ventricular dysplasia 12|Naxos disease|Arrhythmogenic right ventricular dysplasia 12
- rs200327969Conflicting interpretationssingle nucleotide variantVentricular fibrillation, paroxysmal familial, type 1|Naxos disease|Arrhythmogenic right ventricular dysplasia 12|Naxos disease|Arrhythmogenic right ventricular dysplasia 12
- rs200740462Conflicting interpretationssingle nucleotide variantNaxos disease|Arrhythmogenic right ventricular dysplasia 12
- rs202038498Conflicting interpretationssingle nucleotide variantNaxos disease|Arrhythmogenic right ventricular dysplasia 12|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 12|Naxos disease|Cardiomyopathy|Primary dilated cardiomyopathy
- rs371988639Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 12|Naxos disease|Naxos disease|Arrhythmogenic right ventricular dysplasia 12
- rs376043057Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Naxos disease|Arrhythmogenic right ventricular dysplasia 12|Naxos disease|Arrhythmogenic right ventricular dysplasia 12
- rs782058451Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Naxos disease|Arrhythmogenic right ventricular dysplasia 12
- rs782176670Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 12|Naxos disease|Naxos disease|Arrhythmogenic right ventricular dysplasia 12
- rs78437817Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Naxos disease|Arrhythmogenic right ventricular dysplasia 12|Naxos disease|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 12
- rs113994177PathogenicDeletionNaxos disease|Arrhythmogenic right ventricular dysplasia 12
- rs199597864Uncertain significancesingle nucleotide variantCardiovascular phenotype|Naxos disease|Arrhythmogenic right ventricular dysplasia 12
- rs570878629Uncertain significancesingle nucleotide variantCardiovascular phenotype|Naxos disease|Arrhythmogenic right ventricular dysplasia 12|Arrhythmogenic right ventricular dysplasia 12|Naxos disease|Primary dilated cardiomyopathy
- rs782091454Uncertain significancesingle nucleotide variantNaxos disease|Arrhythmogenic right ventricular dysplasia 12|Naxos disease|Arrhythmogenic right ventricular dysplasia 12
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.