Variant (rsID / SNP)
rs794728091
rs794728091 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,101,147. Clinical significance in the table: Pathogenic.
Reference-table entries
DSG2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Insertion
- Chromosome / position
- 18:29101147
- Cytoband
- 18q12.1
- HGVS
- NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)
Associated conditions / phenotypes
Arrhythmogenic right ventricular dysplasia 10
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.