Variant (rsID / SNP)

rs557957405

rs557957405 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,618,259. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SCN5AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:38618259
Cytoband: 3p22.2
HGVS: NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile)
Allele change: Missense_S1081I

Associated conditions / phenotypes

Brugada syndrome 1|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.