Variant (rsID / SNP)

rs141207048

rs141207048 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN10A. Location: chromosome 3, position 38,835,461. Clinical significance in the table: Likely benign.

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Reference-table entries

SCN10ALikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:38835461
Cytoband: 3p22.2
HGVS: NM_006514.4(SCN10A):c.41G>T (p.Arg14Leu)
Allele change: Missense_R14L

Associated conditions / phenotypes

Brugada syndrome|Episodic pain syndrome, familial, 2|Brugada syndrome 1

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.