Variant (rsID / SNP)

rs869025517

rs869025517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,662,386. 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: 3:38662386
Cytoband: 3p22.2
HGVS: NM_000335.5(SCN5A):c.559A>G (p.Thr187Ala)
Allele change: Missense_T187A

Associated conditions / phenotypes

Cardiac arrest|Brugada syndrome

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.