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Variant (rsID / SNP)

rs41283425

JUP

rs41283425 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JUP. Location: chromosome 17, position 39,925,713. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

JUPBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
17:39925713
Cytoband
17q21.2
HGVS
NM_002230.4(JUP):c.425G>A (p.Arg142His)
Allele change
Missense_R142H

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.