Variant (rsID / SNP)

rs7617919

rs7617919 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN10A. Location: chromosome 3, position 38,793,989. Clinical significance in the table: Benign.

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Reference-table entries

SCN10ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:38793989
Cytoband: 3p22.2
HGVS: NM_006514.4(SCN10A):c.1476C>T (p.Leu492=)
Allele change: Synonymous_L492L

Associated conditions / phenotypes

Brugada syndrome|Episodic pain syndrome, familial, 2

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.