Variant (rsID / SNP)
rs397514041
rs397514041 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,660,152. Clinical significance in the table: Pathogenic.
Reference-table entries
DSC2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 18:28660152
- Cytoband
- 18q12.1
- HGVS
- NM_024422.6(DSC2):c.1430del (p.Thr477fs)
Associated conditions / phenotypes
Arrhythmogenic right ventricular dysplasia 11
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.