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Variant (rsID / SNP)

rs200740462

JUP

rs200740462 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JUP. Location: chromosome 17, position 39,921,271. 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
17:39921271
Cytoband
17q21.2
HGVS
NM_002230.4(JUP):c.958C>T (p.Arg320Cys)
Allele change
Missense_R320C

Associated conditions / phenotypes

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.