Variant (rsID / SNP)
rs397514449
rs397514449 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,592,475. Clinical significance in the table: Pathogenic.
Reference-table entries
SCN5APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 3:38592475
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.5382_5384dup (p.Tyr1794_Glu1795insAsp)
Associated conditions / phenotypes
Long QT syndrome 3|Brugada syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.