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Variant (rsID / SNP)

rs782176670

JUP

rs782176670 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JUP. Location: chromosome 17, position 39,913,956. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

JUPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:39913956
Cytoband
17q21.2
HGVS
NM_002230.4(JUP):c.1854C>T (p.Ala618=)
Allele change
Synonymous_A618A

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 12|Naxos disease|Naxos disease|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.