Variant (rsID / SNP)
rs45475899
rs45475899 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,627,472. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SCN5AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:38627472
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg)
- Allele change
- Missense_G833R
Associated conditions / phenotypes
Long QT syndrome|Brugada syndrome|Long QT syndrome 3|Brugada syndrome 1|Brugada syndrome|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.