Variant (rsID / SNP)

rs879255709

rs879255709 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN8A. Location: chromosome 12, position 52,200,218. 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: 12:52200218
Cytoband: 12q13.13
HGVS: NM_001330260.2(SCN8A):c.4948G>A (p.Ala1650Thr)
Allele change: Missense_A1609T

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 13|Epileptic encephalopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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