Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs782058451

JUP

rs782058451 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JUP. Location: chromosome 17, position 39,923,638. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

JUPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:39923638
Cytoband
17q21.2
HGVS
NM_002230.4(JUP):c.902A>G (p.Glu301Gly)
Allele change
Missense_E301G

Associated conditions / phenotypes

Arrhythmogenic right ventricular cardiomyopathy|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.