Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs376043057

JUP

rs376043057 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JUP. Location: chromosome 17, position 39,913,986. 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
17:39913986
Cytoband
17q21.2
HGVS
NM_002230.4(JUP):c.1824G>A (p.Leu608=)
Allele change
Synonymous_L608L

Associated conditions / phenotypes

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