Variant (rsID / SNP)

rs199473153

rs199473153 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,639,228. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SCN5APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:38639228
Cytoband: 3p22.2
HGVS: NM_000335.5(SCN5A):c.2254G>A (p.Gly752Arg)
Allele change: Missense_G752R

Associated conditions / phenotypes

Brugada syndrome|Cardiovascular phenotype

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.