Variant (rsID / SNP)
rs45609733
rs45609733 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,640,489. Clinical significance in the table: Uncertain significance.
Reference-table entries
SCN5AUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:38640489
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu)
- Allele change
- Missense_P648L
Associated conditions / phenotypes
Congenital long QT syndrome|Long QT syndrome|Brugada syndrome|Cardiovascular phenotype|Long QT syndrome 3|Brugada syndrome 1|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.