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Variant (rsID / SNP)

rs121917989

SCN1A

rs121917989 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,903,392. 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
2:166903392
Cytoband
2q24.3
HGVS
NM_001165963.4(SCN1A):c.1265T>A (p.Val422Glu)
Allele change
Missense_V422E

Associated conditions / phenotypes

Generalized epilepsy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.