Variant (rsID / SNP)
rs869025520
rs869025520 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,620,863. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
SCN5APathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:38620863
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.3349C>T (p.Gln1117Ter)
- Allele change
- Silent
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.