Variant (rsID / SNP)
rs137854601
rs137854601 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,592,513. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
SCN5APathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:38592513
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)
- Allele change
- Missense_E1730K
Associated conditions / phenotypes
Long QT syndrome 3|Brugada syndrome 1|Sinus node disease|Congenital long QT syndrome|Brugada syndrome|Cardiovascular phenotype|Long QT syndrome 1|Congenital long QT syndrome|Brugada syndrome|SCN5A-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.