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Variant (rsID / SNP)

rs201592683

SCN1A

rs201592683 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,915,130. 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
2:166915130
Cytoband
2q24.3
HGVS
NM_001165963.4(SCN1A):c.333A>G (p.Leu111=)
Allele change
Synonymous_L111L

Associated conditions / phenotypes

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

Public references

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