Gene entry
SCN8A
sodium voltage-gated channel alpha subunit 8
- Chromosome
- 12
- Cytoband
- 12q13.13
- Variants (rsID)
- 47
SCN8A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q13.13). Its official name is “sodium voltage-gated channel alpha subunit 8”. The reference table lists 47 variants (rsID) for this gene.
Clinically classified variants
15 reference-table entries with clinical significance.
- rs187002252Benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
- rs187153231Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Early infantile epileptic encephalopathy with suppression bursts
- rs200307006Benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|History of neurodevelopmental disorder
- rs117217073Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|History of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 13
- rs144424662Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Early infantile epileptic encephalopathy with suppression bursts
- rs185667241Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
- rs200728478Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Early infantile epileptic encephalopathy with suppression bursts
- rs201458257Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 13|History of neurodevelopmental disorder|Early infantile epileptic encephalopathy with suppression bursts
- rs202212399Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
- rs371712630Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
- rs374452942Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
- rs587777721Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 13|developmental delay with seizures|Early infantile epileptic encephalopathy with suppression bursts|Inborn genetic diseases
- rs794727128Pathogenicsingle nucleotide variantSCN8A-related disorder|Early infantile epileptic encephalopathy with suppression bursts
- rs796053216Pathogenicsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Epileptic encephalopathy|Developmental and epileptic encephalopathy, 13|Epilepsy
- rs879255709Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 13|Epileptic encephalopathy
Other listed variants
- rs747283
- rs1871998
- rs2580807
- rs3782475
- rs4512905
- rs4761826
- rs7957593
- rs7966498
- rs11837557
- rs11837913
- rs12372679
- rs56764080
- rs60490633
- rs61933770
- rs77203435
- rs78508222
- rs78574971
- rs79774668
- rs79843844
- rs113991264
- rs115692430
- rs116960497
- rs117305762
- rs117421828
- rs117713853
- rs117934372
- rs117993532
- rs118009798
- rs118050982
- rs146359530
- rs149583439
- rs587780586
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.