Variant (rsID / SNP)

rs199473559

rs199473559 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,662,334. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SCN5AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:38662334
Cytoband: 3p22.2
HGVS: NM_000335.5(SCN5A):c.611C>T (p.Ala204Val)
Allele change: Missense_A204E

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.