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Variant (rsID / SNP)

rs200728478

SCN8A

rs200728478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN8A. Location: chromosome 12, position 52,188,394. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCN8AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:52188394
Cytoband
12q13.13
HGVS
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=)
Allele change
Synonymous_F1547F

Associated conditions / phenotypes

History of neurodevelopmental disorder|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.