Gene
SCN1B
sodium voltage-gated channel beta subunit 1
- HGNC 10586↗(opens in a new tab)
- Ensembl gene ENSG00000105711↗(opens in a new tab)
- NCBI Gene 6324↗(opens in a new tab)
Summary
- Cytogenetic location
- 19q13.11
- Coordinates
- Chromosome 19: 35,030,470–35,040,449 (GRCh38)
- Exons
- 6 exons across 10 kb
- Protein
- 218 amino acids
- MANE Select transcript
- ENST00000262631.11NM_001037.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
How SCN1B is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.7 kb of the gene's 10 kb; 657 of those bases code for the protein.
How a genome test reads SCN1B
38
positions in SCN1B where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 10 kb of SCN1B, introns included, not only the 1.7 kb of exons.
Variants with a page (1)
The SCN1B variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| c.449-2A>G | Intron 3 | 35,039,115 | Pathogenic | ★★★★3 stars out of 4 reviewed by expert panel |
Genes linked to the same conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- ABAT4-aminobutyrate aminotransferaseShares 1 condition
- ACTL6Bactin like 6BShares 1 condition
- ADAM22ADAM metallopeptidase domain 22Shares 1 condition
- ALDH7A1aldehyde dehydrogenase 7 family member A1Shares 1 condition
- ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- AP3B2adaptor related protein complex 3 subunit beta 2Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARV1ARV1 fatty acid homeostasis modulatorShares 1 condition
- ARXaristaless related homeoboxShares 1 condition
- ATP1A2ATPase Na+/K+ transporting subunit alpha 2Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
Traits linked to SCN1B
The Human Phenotype Ontology lists these as features of the rare conditions SCN1B can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Epilepsy
- Generalized myoclonic seizure
- Grand mal seizures
- Epileptic encephalopathy
- Focal motor seizure
- Generalized-onset seizure
- Global developmental delay
- Intellectual disability
Show 66 more traits
- Loss of developmental milestones
- Progressive gait ataxia
- Seizure affecting one half of brain
- Anxiety
- Atypical absence seizure
- Autism spectrum disorder
- Brief seizures with staring spells
- Cognitive impairment
- Complex febrile seizure
- Difficulty sleeping
- EEG abnormality
- EEG with burst suppression
- Epilepsia partialis continua
- Febrile seizure (within the age range of 3 months to 6 years)
- Focal aware seizure
- Focal hemiclonic seizure
- Focal impaired awareness seizure
- Focal tonic seizure
- Generalized clonic seizure
- Hypsarrhythmia
- Increased reflexes
- Interictal epileptiform activity
- Jerking
- Lethargy
- Multifocal epileptiform discharges
- Obsessive-compulsive trait
- Parkinsonism
- Photosensitive myoclonic seizure
- Photosensitive tonic-clonic seizure
- Slow movements
- Action tremor
- Ataxia
- Atypical absence status epilepticus
- Choreoathetosis
- Cortical dysplasia
- Degeneration of cerebellum
- Delayed myelination
- Diffuse cerebral atrophy
- Diffuse white matter abnormalities
- Disorder of involuntary muscle movements
- Dysgenesis of the hippocampus
- EEG with focal epileptiform discharges
- EEG with generalized epileptiform discharges
- EEG with spike-wave complexes
- Episodic ataxia
- Fewer and broader ridges in brain
- Generalized brain degeneration
- Generalized cerebral degeneration/underdevelopment
- Generalized tonic seizure
- Impulsivity
- Incoordination
- Infantile spasms
- More active than typical
- Poor fine motor coordination
- Self-injurious behavior
- Short attention span
- Status epilepticus without prominent motor symptoms
- Sudden loss of muscle tone
- Tremor
- Underdevelopment of part of brain called corpus callosum
- Uni- and bilateral multifocal epileptiform discharges
- Dystonia
- Repeated seizures without recovery between them
- Abnormal pyramidal sign
- Developmental stagnation
- Limb ataxia
Abnormality of the cardiovascular system
- Paroxysmal atrial fibrillation
- Abnormal heart rate
- Bundle branch block
- Cardiac failure
- Complete right bundle branch block
- Fainting spell
- Heart block
- Heart stops beating
Show 15 more traits
- Left atrial enlargement
- Narrowing of aortic valve
- Palpitations
- Quivering upper heart chambers resulting in irregular heartbeat
- ST segment elevation
- Elevated heart rate
- First degree atrioventricular block
- Heart attack
- Paroxysmal ventricular tachycardia
- Sick sinus syndrome
- Supraventricular tachycardia
- Ventricular fibrillation
- Hole in heart wall separating two lower heart chambers
- Trifascicular block
- Ventricular arrhythmia
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SCN1B gene: sodium voltage-gated channel beta subunit 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/scn1b
Dante Labs. SCN1B gene: sodium voltage-gated channel beta subunit 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/scn1b
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