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Variant (rsID / SNP)

rs201458257

SCN8A

rs201458257 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN8A. Location: chromosome 12, position 52,188,378. 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
12:52188378
Cytoband
12q13.13
HGVS
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr)
Allele change
Missense_I1542T

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 13|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.