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Variant (rsID / SNP)

rs121917964

SCN1A

rs121917964 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,929,881. 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
2:166929881
Cytoband
2q24.3
HGVS
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys)
Allele change
Missense_Y84C

Associated conditions / phenotypes

Severe myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts|Migraine, familial hemiplegic, 3|Generalized epilepsy with febrile seizures plus, type 2|Severe myoclonic epilepsy in infancy

Public references

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