Variant (rsID / SNP)

rs41311121

rs41311121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,592,526. 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: 3:38592526
Cytoband: 3p22.2
HGVS: NM_000335.5(SCN5A):c.5334G>A (p.Thr1778=)
Allele change: Synonymous_T1725T

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.