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Variant (rsID / SNP)

rs148442069

SCN1A

rs148442069 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,915,084. 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
2:166915084
Cytoband
2q24.3
HGVS
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)
Allele change
Missense_H127D

Associated conditions / phenotypes

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.