Variant (rsID / SNP)

rs794728879

rs794728879 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,601,637. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SCN5APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:38601637
Cytoband: 3p22.2
HGVS: NM_000335.5(SCN5A):c.4242+1G>C
Allele change: Silent

Associated conditions / phenotypes

Brugada syndrome|Brugada syndrome|Congenital long QT syndrome|Dilated cardiomyopathy 1E|Long QT syndrome 3

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.