Variant (rsID / SNP)

rs199473249

rs199473249 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,598,048. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SCN5ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:38598048
Cytoband: 3p22.2
HGVS: NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln)
Allele change: Missense_E1387Q

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.