Variant (rsID / SNP)
rs200327969
rs200327969 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JUP. Location: chromosome 17, position 39,914,003. 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
- 17:39914003
- Cytoband
- 17q21.2
- HGVS
- NM_002230.4(JUP):c.1807G>T (p.Val603Leu)
- Allele change
- Missense_V603L
Associated conditions / phenotypes
Ventricular fibrillation, paroxysmal familial, type 1|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.