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Variant (rsID / SNP)

rs199473220

SCN5A

rs199473220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,603,913. 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
3:38603913
Cytoband
3p22.2
HGVS
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)
Allele change
Missense_G1265V

Associated conditions / phenotypes

Brugada syndrome|Cardiovascular phenotype|Long QT syndrome 3|Brugada syndrome (shorter-than-normal QT interval)|Cardiac arrhythmia

Public references

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