Variant (rsID / SNP)

rs199473118

rs199473118 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,645,558. 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: 3:38645558
Cytoband: 3p22.2
HGVS: NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile)
Allele change: Missense_T512I

Associated conditions / phenotypes

Cardiac conduction defect, nonspecific|Brugada syndrome 1|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.