Variant (rsID / SNP)

rs121917962

rs121917962 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,854,639. The table records no clinical significance for this variant.

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Reference-table entries

SCN1ANot classified

Variant type: single nucleotide variant
Chromosome / position: 2:166854639
Cytoband: 2q24.3
HGVS: NM_001165963.4(SCN1A):c.4385A>G (p.Tyr1462Cys)
Allele change: Silent

Associated conditions / phenotypes

Severe myoclonic epilepsy in infancy

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.