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Variant (rsID / SNP)

rs146848219

SCN5A

rs146848219 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,645,495. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SCN5AUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
3:38645495
Cytoband
3p22.2
HGVS
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)
Allele change
Missense_R533H

Associated conditions / phenotypes

Brugada syndrome|Congenital long QT syndrome|Progressive familial heart block|Paroxysmal familial ventricular fibrillation|Dilated Cardiomyopathy, Dominant|Long QT syndrome|Sick sinus 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.