Variant (rsID / SNP)
rs149926974
rs149926974 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JUP. Location: chromosome 17, position 39,915,057. 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
- 17:39915057
- Cytoband
- 17q21.2
- HGVS
- NM_002230.4(JUP):c.1563A>G (p.Ala521=)
- Allele change
- Synonymous_A521A
Associated conditions / phenotypes
Arrhythmogenic right ventricular dysplasia 12|Naxos disease|Cardiovascular phenotype|Naxos disease|Arrhythmogenic right ventricular dysplasia 12|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.