Variant (rsID / SNP)

rs1057518916

rs1057518916 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,647,525. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SCN5ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:38647525
Cytoband: 3p22.2
HGVS: NM_000335.5(SCN5A):c.1255C>T (p.Gln419Ter)
Allele change: Nonsense_Q419X

Associated conditions / phenotypes

Syncope

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.