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SCN1A

Synonyms
DEE6, DEE6A, DEE6B, DRVT, EIEE6, FEB3, FEB3A, FHM3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI
External resources
Summary
Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
10
Likely pathogenic
4
VUS
10,696
Likely benign
3,158
Benign
8,096

Patient phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on SCN1A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
92.9%
Abnormality of head or neck
21.4%
Abnormality of the genitourinary system
14.3%
Abnormality of the integument
14.3%
Abnormality of the musculoskeletal system
14.3%
Growth abnormality
14.3%
Abnormality of limbs
7.1%
Abnormality of the cardiovascular system
7.1%
Abnormality of the ear
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of the eye
7.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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