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Variant (rsID / SNP)

rs121917993

SCN1A

rs121917993 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,850,722. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SCN1APathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:166850722
Cytoband
2q24.3
HGVS
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)
Allele change
Silent

Associated conditions / phenotypes

Focal epilepsy|Early infantile epileptic encephalopathy with suppression bursts|Generalized epilepsy with febrile seizures plus, type 2|Severe myoclonic epilepsy in infancy|Autosomal dominant epilepsy

Public references

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