Variant (rsID / SNP)
rs794728912
rs794728912 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,627,436. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
SCN5APathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 3:38627436
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.2533del (p.Val845fs)
Associated conditions / phenotypes
Brugada syndrome|Cardiovascular phenotype
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.