Variant (rsID / SNP)
rs199473316
rs199473316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,592,503. 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
- 3:38592503
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn)
- Allele change
- Missense_S1733N
Associated conditions / phenotypes
Long QT syndrome|Familial isolated arrhythmogenic right ventricular dysplasia|Cardiovascular phenotype|Brugada syndrome 1|Brugada syndrome|Dilated cardiomyopathy 1E|Sick sinus syndrome 1|Ventricular fibrillation, paroxysmal familial, type 1|Progressive familial heart block, type 1A|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.