Variant (rsID / SNP)

rs397514251

rs397514251 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,597,170. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SCN5APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 3:38597170
Cytoband: 3p22.2
HGVS: NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del)

Associated conditions / phenotypes

Long QT syndrome 3|Brugada syndrome

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.