Variant (rsID / SNP)
rs78437817
rs78437817 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JUP. Location: chromosome 17, position 39,919,366. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
JUPConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:39919366
- Cytoband
- 17q21.2
- HGVS
- NM_002230.4(JUP):c.1366G>A (p.Val456Ile)
- Allele change
- Missense_V456I
Associated conditions / phenotypes
Arrhythmogenic right ventricular cardiomyopathy|Naxos disease|Arrhythmogenic right ventricular dysplasia 12|Naxos disease|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 12
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.