Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs199473145

SCN5A

rs199473145 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,639,416. Clinical significance in the table: Uncertain significance.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SCN5AUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
3:38639416
Cytoband
3p22.2
HGVS
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His)
Allele change
Missense_R689H

Associated conditions / phenotypes

Long QT syndrome|Brugada syndrome|Cardiovascular phenotype|SCN5A-Related Arrhythmias|Brugada syndrome 1|Cardiac arrhythmia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.