Variant (rsID / SNP)
rs41313703
rs41313703 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,648,232. 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
- 3:38648232
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.1068T>C (p.Asp356=)
- Allele change
- Synonymous_D356D
Associated conditions / phenotypes
Brugada syndrome|Paroxysmal familial ventricular fibrillation|Dilated Cardiomyopathy, Dominant|Long QT syndrome|Sick sinus syndrome|Progressive familial heart block|Congenital long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.