Variant (rsID / SNP)
rs794728072
rs794728072 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,651,570. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DSC2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Deletion
- Chromosome / position
- 18:28651570
- Cytoband
- 18q12.1
- HGVS
- NM_024422.6(DSC2):c.2125+1del
Associated conditions / phenotypes
Arrhythmogenic right ventricular dysplasia 11|Dilated cardiomyopathy 1A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.