Variant (rsID / SNP)
rs570878629
rs570878629 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JUP. Location: chromosome 17, position 39,928,051. Clinical significance in the table: Uncertain significance.
Reference-table entries
JUPUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:39928051
- Cytoband
- 17q21.2
- HGVS
- NM_002230.4(JUP):c.56C>T (p.Thr19Ile)
- Allele change
- Missense_T19I
Associated conditions / phenotypes
Cardiovascular phenotype|Naxos disease|Arrhythmogenic right ventricular dysplasia 12|Arrhythmogenic right ventricular dysplasia 12|Naxos disease|Primary dilated cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.