Variant (rsID / SNP)

rs199473115

rs199473115 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,646,328. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SCN5AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:38646328
Cytoband: 3p22.2
HGVS: NM_000335.5(SCN5A):c.1410C>G (p.Asn470Lys)
Allele change: Missense_N470K

Associated conditions / phenotypes

Atrial fibrillation, familial, 10|Atrial fibrillation|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.