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Variant (rsID / SNP)

rs200176684

SCN1A

rs200176684 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,901,716. 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
2:166901716
Cytoband
2q24.3
HGVS
NM_001165963.4(SCN1A):c.1499G>A (p.Arg500Gln)
Allele change
Missense_R500Q

Associated conditions / phenotypes

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.