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Variant (rsID / SNP)

rs372395294

SCN5A

rs372395294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,647,533. 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
3:38647533
Cytoband
3p22.2
HGVS
NM_000335.5(SCN5A):c.1247A>G (p.Tyr416Cys)
Allele change
Missense_Y416C

Associated conditions / phenotypes

Familial isolated arrhythmogenic right ventricular dysplasia|Cardiac arrhythmia

Public references

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