Variant (rsID / SNP)
rs202038498
rs202038498 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JUP. Location: chromosome 17, position 39,925,382. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
JUPConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:39925382
- Cytoband
- 17q21.2
- HGVS
- NM_002230.4(JUP):c.546G>A (p.Ser182=)
- Allele change
- Synonymous_S182S
Associated conditions / phenotypes
Naxos disease|Arrhythmogenic right ventricular dysplasia 12|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 12|Naxos disease|Cardiomyopathy|Primary dilated cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.