Variant (rsID / SNP)
rs41311117
rs41311117 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,591,853. 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
- 3:38591853
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
- Allele change
- Missense_F1950L
Associated conditions / phenotypes
Brugada syndrome|Long QT syndrome|Long QT syndrome 3|Brugada syndrome 1|Cardiovascular phenotype|Brugada syndrome 1|Cardiomyopathy|Brugada syndrome|Sick sinus syndrome 1|Progressive familial heart block, type 1A|Long QT syndrome 3|Ventricular fibrillation, paroxysmal familial, type 1|Dilated cardiomyopathy 1E|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.