Variant (rsID / SNP)

rs1064795085

rs1064795085 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,640,511. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SCN5APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:38640511
Cytoband: 3p22.2
HGVS: NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter)
Allele change: Nonsense_Q641X

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.