Variant (rsID / SNP)

rs147678484

rs147678484 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN3A. Location: chromosome 2, position 166,003,301. Clinical significance in the table: Likely benign.

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Reference-table entries

SCN3ALikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:166003301
Cytoband: 2q24.3
HGVS: NM_006922.4(SCN3A):c.1619C>T (p.Ser540Phe)
Allele change: Missense_S540F

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.