Gene entry
SCN1A
sodium voltage-gated channel alpha subunit 1
- Chromosome
- 2
- Cytoband
- 2q24.3
- Variants (rsID)
- 127
SCN1A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q24.3). Its official name is “sodium voltage-gated channel alpha subunit 1”. The reference table lists 127 variants (rsID) for this gene.
Clinically classified variants
93 reference-table entries with clinical significance.
- rs121917956Benignsingle nucleotide variantMigraine, familial hemiplegic, 3|Epilepsy|History of neurodevelopmental disorder|Severe myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts|Generalized epilepsy with febrile seizures plus, type 2
- rs121918818Benignsingle nucleotide variantAutism|Early infantile epileptic encephalopathy with suppression bursts
- rs138231868Benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|History of neurodevelopmental disorder
- rs138877187Benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
- rs1542484Benignsingle nucleotide variant
- rs577306Benignsingle nucleotide variant
- rs6432860Benignsingle nucleotide variantGeneralized epilepsy with febrile seizures plus|Epilepsy|Migraine, familial hemiplegic, 3|History of neurodevelopmental disorder|Early infantile epileptic encephalopathy with suppression bursts|Generalized epilepsy with febrile seizures plus, type 2
- rs6731591Benignsingle nucleotide variant
- rs114137271Conflicting interpretationssingle nucleotide variantEpilepsy|Migraine, familial hemiplegic, 3|History of neurodevelopmental disorder|Early infantile epileptic encephalopathy with suppression bursts|Generalized epilepsy with febrile seizures plus, type 2
- rs121917910Conflicting interpretationssingle nucleotide variantSevere myoclonic epilepsy in infancy|History of neurodevelopmental disorder|Migraine, familial hemiplegic, 3|Generalized epilepsy with febrile seizures plus, type 2|Early infantile epileptic encephalopathy with suppression bursts
- rs121917973Conflicting interpretationssingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts|Severe myoclonic epilepsy in infancy|Generalized epilepsy with febrile seizures plus, type 2
- rs121918768Conflicting interpretationssingle nucleotide variantSevere myoclonic epilepsy in infancy
- rs121918785Conflicting interpretationssingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts
- rs121918799Conflicting interpretationssingle nucleotide variantMigraine, familial hemiplegic, 3|Epilepsy|Generalized tonic-clonic seizures|Generalized non-motor (absence) seizure|Seizure|Childhood epilepsy with centrotemporal spikes|History of neurodevelopmental disorder|Severe myoclonic epilepsy in infancy|Generalized epilepsy with febrile seizures plus, type 2|Early infantile epileptic encephalopathy with suppression bursts
- rs121918805Conflicting interpretationssingle nucleotide variantGeneralized epilepsy with febrile seizures plus, type 1|Early infantile epileptic encephalopathy with suppression bursts
- rs121918807Conflicting interpretationssingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts
- rs121918817Conflicting interpretationssingle nucleotide variantAutism|Early infantile epileptic encephalopathy with suppression bursts|Severe myoclonic epilepsy in infancy|Epilepsy|Childhood epilepsy with centrotemporal spikes|History of neurodevelopmental disorder|Severe myoclonic epilepsy in infancy|Migraine, familial hemiplegic, 3|Intellectual disability
- rs140731963Conflicting interpretationssingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts
- rs142571794Conflicting interpretationssingle nucleotide variantEpilepsy|Migraine, familial hemiplegic, 3|History of neurodevelopmental disorder|Early infantile epileptic encephalopathy with suppression bursts|Generalized epilepsy with febrile seizures plus, type 2
- rs142910512Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Early infantile epileptic encephalopathy with suppression bursts|Migraine, familial hemiplegic, 3|Generalized epilepsy with febrile seizures plus, type 2
- rs145296488Conflicting interpretationssingle nucleotide variantEpilepsy|Migraine, familial hemiplegic, 3|Early infantile epileptic encephalopathy with suppression bursts|History of neurodevelopmental disorder|Generalized epilepsy with febrile seizures plus, type 2
- rs146733308Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Migraine, familial hemiplegic, 3|Severe myoclonic epilepsy in infancy|Generalized epilepsy with febrile seizures plus, type 2|Early infantile epileptic encephalopathy with suppression bursts|Seizure
- rs148442069Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Migraine, familial hemiplegic, 3|Generalized epilepsy with febrile seizures plus, type 2|Severe myoclonic epilepsy in infancy
- rs150154265Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
- rs200176684Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
- rs201079458Conflicting interpretationssingle nucleotide variantMigraine, familial hemiplegic, 3|Generalized epilepsy with febrile seizures plus, type 2|Severe myoclonic epilepsy in infancy|SCN1A-Related Disorders|Early infantile epileptic encephalopathy with suppression bursts
- rs201592683Conflicting interpretationssingle nucleotide variantMigraine, familial hemiplegic, 3|Epilepsy|Generalized epilepsy with febrile seizures plus, type 2|Early infantile epileptic encephalopathy with suppression bursts
- rs201604887Conflicting interpretationssingle nucleotide variantMigraine, familial hemiplegic, 3|Epilepsy|Generalized epilepsy with febrile seizures plus, type 2|Early infantile epileptic encephalopathy with suppression bursts
- rs201870762Conflicting interpretationssingle nucleotide variantMigraine, familial hemiplegic, 3|Epilepsy|Early infantile epileptic encephalopathy with suppression bursts|History of neurodevelopmental disorder|Generalized epilepsy with febrile seizures plus, type 2
- rs368834365Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
- rs372425457Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Severe myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts
- rs373417440Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
- rs373967247Conflicting interpretationssingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts
- rs377325221Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Early infantile epileptic encephalopathy with suppression bursts
- rs570862962Conflicting interpretationsDeletionEarly infantile epileptic encephalopathy with suppression bursts
- rs587780445Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
- rs750943685Conflicting interpretationssingle nucleotide variantMigraine, familial hemiplegic, 3|Epilepsy|Generalized epilepsy with febrile seizures plus, type 2|Early infantile epileptic encephalopathy with suppression bursts
- rs794727415Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
- rs796052999Conflicting interpretationssingle nucleotide variant
- rs886055042Conflicting interpretationssingle nucleotide variantMigraine, familial hemiplegic, 3|Epilepsy|Generalized epilepsy with febrile seizures plus, type 2|Early infantile epileptic encephalopathy with suppression bursts
- rs3812718Drug responsesingle nucleotide variantFebrile seizures, familial, 3a|carbamazepine response - Dosage|Early infantile epileptic encephalopathy with suppression bursts
- rs115015575Likely benignsingle nucleotide variant
- rs121917912Likely pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts|Generalized epilepsy with febrile seizures plus, type 2
- rs121917923Likely pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy
- rs121917981Likely pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy
- rs121918745Likely pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts
- rs121918751Likely pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Seizure
- rs121917915Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Delayed speech and language development|Seizure|Early infantile epileptic encephalopathy with suppression bursts
- rs121917918Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts|Migraine, familial hemiplegic, 3
- rs121917919Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts
- rs121917927Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts|Migraine, familial hemiplegic, 3
- rs121917937Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts
- rs121917938Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy
- rs121917957Pathogenicsingle nucleotide variantGeneralized epilepsy with febrile seizures plus, type 1|Severe myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts|Generalized epilepsy with febrile seizures plus, type 2
- rs121917960Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts
- rs121917964Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts|Migraine, familial hemiplegic, 3|Generalized epilepsy with febrile seizures plus, type 2|Severe myoclonic epilepsy in infancy
- rs121917965Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts|Migraine, familial hemiplegic, 3
- rs121917971Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy
- rs121917972Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy
- rs121917976Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|History of neurodevelopmental disorder|Generalized epilepsy with febrile seizures plus, type 2|Severe myoclonic epilepsy in infancy|Migraine, familial hemiplegic, 3|Migraine, familial hemiplegic, 3|Early infantile epileptic encephalopathy with suppression bursts
- rs121917985Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy
- rs121917986Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts
- rs121917990Pathogenicsingle nucleotide variantGeneralized epilepsy|Severe myoclonic epilepsy in infancy
- rs121917993Pathogenicsingle nucleotide variantFocal epilepsy|Early infantile epileptic encephalopathy with suppression bursts|Generalized epilepsy with febrile seizures plus, type 2|Severe myoclonic epilepsy in infancy|Autosomal dominant epilepsy
- rs121917995Pathogenicsingle nucleotide variantMacrocephaly and epileptic encephalopathy|Early infantile epileptic encephalopathy with suppression bursts|Inborn genetic diseases|Migraine, familial hemiplegic, 3
- rs121918624Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|History of neurodevelopmental disorder|Severe myoclonic epilepsy in infancy|Migraine, familial hemiplegic, 3|Generalized epilepsy with febrile seizures plus, type 2|Early infantile epileptic encephalopathy with suppression bursts|Intellectual disability
- rs121918631Pathogenicsingle nucleotide variantGeneralized epilepsy with febrile seizures plus, type 2|Febrile seizures, familial, 3a
- rs121918733Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy
- rs121918734Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts
- rs121918737Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy
- rs121918739Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy
- rs121918740Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts
- rs121918741Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts
- rs121918742Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy
- rs121918770Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts
- rs121918773Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts
- rs121918784Pathogenicsingle nucleotide variantGeneralized epilepsy with febrile seizures plus, type 1|Seizure|Early infantile epileptic encephalopathy with suppression bursts|Generalized epilepsy with febrile seizures plus, type 2
- rs121918788Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts
- rs786205214Pathogenicsingle nucleotide variantGeneralized epilepsy with febrile seizures plus, type 2|Severe myoclonic epilepsy in infancy
- rs794726697Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts|Seizure
- rs794726719Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy
- rs794726754PathogenicDeletionSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts|Epileptic encephalopathy
- rs794726765Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy
- rs794726799Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts|Seizure
- rs794726841Pathogenicsingle nucleotide variantSevere myoclonic epilepsy in infancy
- rs796053054PathogenicDuplicationEarly infantile epileptic encephalopathy with suppression bursts
- rs121917914Uncertain significancesingle nucleotide variantSevere myoclonic epilepsy in infancy|Early infantile epileptic encephalopathy with suppression bursts|Generalized epilepsy with febrile seizures plus, type 2|Severe myoclonic epilepsy in infancy
- rs138799232Uncertain significancesingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
- rs398123581Uncertain significancesingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
- rs121917908Not classifiedsingle nucleotide variantSevere myoclonic epilepsy in infancy
- rs121917962Not classifiedsingle nucleotide variantSevere myoclonic epilepsy in infancy
- rs121917978Not classifiedsingle nucleotide variantSevere myoclonic epilepsy in infancy
- rs121917989Not classifiedsingle nucleotide variantGeneralized epilepsy
Other listed variants
- rs487374
- rs508585
- rs519110
- rs533202
- rs580041
- rs1020852
- rs1030445
- rs2212656
- rs2212660
- rs4233806
- rs6735544
- rs6749736
- rs7562616
- rs7587026
- rs7593275
- rs7600739
- rs10188577
- rs10194655
- rs11681250
- rs11692675
- rs11890028
- rs12151636
- rs12987787
- rs13004083
- rs16851382
- rs16851533
- rs75594210
- rs76066774
- rs79989540
- rs115517012
- rs115525490
- rs116289177
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.