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Variant (rsID / SNP)

rs142095597

JUP

rs142095597 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JUP. Location: chromosome 17, position 39,913,900. 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
17:39913900
Cytoband
17q21.2
HGVS
NM_002230.4(JUP):c.1910G>A (p.Arg637His)
Allele change
Missense_R637H

Associated conditions / phenotypes

Naxos disease|Arrhythmogenic right ventricular dysplasia 12|Cardiovascular phenotype

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.