Variant (rsID / SNP)

rs192493052

rs192493052 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN10A. Location: chromosome 3, position 38,760,269. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SCN10AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:38760269
Cytoband: 3p22.2
HGVS: NM_006514.4(SCN10A):c.3556C>A (p.Leu1186Met)
Allele change: Missense_L1185M

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.