Variant (rsID / SNP)

rs183988524

rs183988524 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,674,757. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SCN5ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:38674757
Cytoband: 3p22.2
HGVS: NM_000335.5(SCN5A):c.42C>T (p.Arg14=)
Allele change: Synonymous_R14R

Associated conditions / phenotypes

Brugada syndrome|Cardiac arrhythmia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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