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Variant (rsID / SNP)

rs199473083

SCN5A

rs199473083 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,651,314. 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
3:38651314
Cytoband
3p22.2
HGVS
NM_000335.5(SCN5A):c.845G>A (p.Arg282His)
Allele change
Missense_R282H

Associated conditions / phenotypes

Brugada syndrome|Brugada syndrome 1

Public references

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