Variant (rsID / SNP)
rs150194093
rs150194093 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JUP. Location: chromosome 17, position 39,921,194. 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
- 17:39921194
- Cytoband
- 17q21.2
- HGVS
- NM_002230.4(JUP):c.1035G>C (p.Lys345Asn)
- Allele change
- Missense_K345N
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|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.