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Variant (rsID / SNP)

rs45471994

SCN5A

rs45471994 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,655,243. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCN5AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:38655243
Cytoband
3p22.2
HGVS
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile)
Allele change
Silent

Associated conditions / phenotypes

Brugada syndrome|Brugada syndrome, lidocaine-induced|Cardiovascular phenotype|Brugada syndrome 1|Cardiac arrhythmia

Public references

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