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Variant (rsID / SNP)

rs121917912

SCN1A

rs121917912 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,868,764. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SCN1ALikely pathogenic
Clinical significance (as recorded)
Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:166868764
Cytoband
2q24.3
HGVS
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln)
Allele change
Silent

Associated conditions / phenotypes

Severe myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts|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.