Variant (rsID / SNP)

rs199473087

rs199473087 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,651,264. Clinical significance in the table: Likely benign.

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Reference-table entries

SCN5ALikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:38651264
Cytoband: 3p22.2
HGVS: NM_000335.5(SCN5A):c.895T>A (p.Leu299Met)
Allele change: Missense_L299M

Associated conditions / phenotypes

Cardiovascular phenotype|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.