Variant (rsID / SNP)
rs1060499940
rs1060499940 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,639,296. Clinical significance in the table: Pathogenic.
Reference-table entries
SCN5APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 3:38639296
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.2184_2186del (p.Leu729del)
Associated conditions / phenotypes
Familial isolated arrhythmogenic right ventricular dysplasia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.