Variant (rsID / SNP)
rs144171604
rs144171604 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JUP. Location: chromosome 17, position 39,925,401. Clinical significance in the table: Benign.
Reference-table entries
JUPBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:39925401
- Cytoband
- 17q21.2
- HGVS
- NM_002230.4(JUP):c.527G>A (p.Arg176Gln)
- Allele change
- Missense_R176Q
Associated conditions / phenotypes
Cardiovascular phenotype|Naxos disease|Arrhythmogenic right ventricular dysplasia 12|Primary dilated cardiomyopathy|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.