Variant (rsID / SNP)
rs144511230
rs144511230 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,646,297. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:38646297
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp)
- Allele change
- Missense_R481W
Associated conditions / phenotypes
Long QT syndrome 3|Brugada syndrome 1|Long QT syndrome 3|Brugada syndrome|Cardiovascular phenotype|Brugada syndrome|Long QT syndrome 3|Progressive familial heart block, type 1A|Brugada syndrome 1|Sick sinus syndrome 1|Dilated cardiomyopathy 1E|Ventricular fibrillation, paroxysmal familial, type 1|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.