Variant (rsID / SNP)

rs1060501114

rs1060501114 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,627,333. 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: 3:38627333
Cytoband: 3p22.2
HGVS: NM_000335.5(SCN5A):c.2636G>A (p.Trp879Ter)
Allele change: Nonsense_W879X

Associated conditions / phenotypes

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.