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Variant (rsID / SNP)

rs782091454

JUP

rs782091454 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JUP. Location: chromosome 17, position 39,923,722. Clinical significance in the table: Uncertain significance.

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Reference-table entries

JUPUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
17:39923722
Cytoband
17q21.2
HGVS
NM_002230.4(JUP):c.818T>C (p.Met273Thr)
Allele change
Missense_M273T

Associated conditions / phenotypes

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.