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Variant (rsID / SNP)

rs587777721

SCN8A

rs587777721 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN8A. Location: chromosome 12, position 52,200,120. Clinical significance in the table: Pathogenic.

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Reference-table entries

SCN8APathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
12:52200120
Cytoband
12q13.13
HGVS
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln)
Allele change
Missense_R1576Q

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 13|developmental delay with seizures|Early infantile epileptic encephalopathy with suppression bursts|Inborn genetic diseases

Public references

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