Variant (rsID / SNP)
rs137854617
rs137854617 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,622,493. 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
- 3:38622493
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)
- Allele change
- Missense_E1053K
Associated conditions / phenotypes
Brugada syndrome 1|Atrial fibrillation, familial, 10|Congenital long QT syndrome|Brugada syndrome|Long QT syndrome 3|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.