Variant (rsID / SNP)
rs137854619
rs137854619 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,592,408. 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
- 3:38592408
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)
- Allele change
- Missense_D1765N
Associated conditions / phenotypes
Long QT syndrome 2/3, digenic|Congenital long QT syndrome|Long QT syndrome|Brugada syndrome|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.