Variant (rsID / SNP)
rs863225273
rs863225273 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,595,811. Clinical significance in the table: Pathogenic.
Reference-table entries
SCN5APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:38595811
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.4769G>A (p.Trp1590Ter)
- Allele change
- Nonsense_W1537X
Associated conditions / phenotypes
Brugada syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.