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Variant (rsID / SNP)

rs137854604

SCN5A

rs137854604 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,592,734. 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
3:38592734
Cytoband
3p22.2
HGVS
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)
Allele change
Missense_S1656L

Associated conditions / phenotypes

Ventricular fibrillation, paroxysmal familial, type 1|Ventricular fibrillation|Brugada syndrome 1|Cardiovascular phenotype|Brugada syndrome|Cardiac arrhythmia

Public references

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