Variant (rsID / SNP)

rs794728854

rs794728854 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,647,613. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SCN5APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:38647613
Cytoband: 3p22.2
HGVS: NM_000335.5(SCN5A):c.1167C>A (p.Tyr389Ter)
Allele change: Nonsense_Y389X

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.