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Variant (rsID / SNP)

rs121917973

SCN1A

rs121917973 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,868,784. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCN1AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:166868784
Cytoband
2q24.3
HGVS
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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