Variant (rsID / SNP)

rs137854612

rs137854612 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN5A. Location: chromosome 3, position 38,601,661. Clinical significance in the table: Pathogenic.

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Reference-table entries

SCN5APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:38601661
Cytoband: 3p22.2
HGVS: NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg)
Allele change: Missense_G1354R

Associated conditions / phenotypes

Sick sinus syndrome 1|Brugada syndrome 1|Cardiac conduction defect, nonspecific|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.