Variant (rsID / SNP)

rs199473147

rs199473147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,639,380. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SCN5AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:38639380
Cytoband: 3p22.2
HGVS: NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu)
Allele change: Missense_P701L

Associated conditions / phenotypes

Congenital long QT syndrome|Long QT syndrome|Brugada syndrome|Cardiovascular phenotype|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.