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Variant (rsID / SNP)

rs192113333

SCN5A

rs192113333 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,662,392. 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
3:38662392
Cytoband
3p22.2
HGVS
NM_000335.5(SCN5A):c.553G>A (p.Ala185Thr)
Allele change
Missense_A185T

Associated conditions / phenotypes

Congenital long QT syndrome|Brugada syndrome 1|Cardiac arrhythmia|Brugada syndrome

Public references

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