Variant (rsID / SNP)
rs41261344
rs41261344 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,616,876. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
SCN5ABenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:38616876
- Cytoband
- 3p22.2
- HGVS
- NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln)
- Allele change
- Missense_R1139Q
Associated conditions / phenotypes
Brugada syndrome 1|Long qt syndrome 3, acquired, susceptibility to|Primary familial hypertrophic cardiomyopathy|Brugada syndrome|Cardiovascular phenotype|Long QT syndrome 3|Ventricular fibrillation, paroxysmal familial, type 1|Dilated cardiomyopathy 1E|Sick sinus syndrome 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.