SCN4A Chromosome 17
Sodium voltage-gated channel alpha subunit 4
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What This Gene Does
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Sodium voltage-gated channel alpha subunits
Locus Type
gene with protein product
Location
17q23.3
Ensembl
ENSG00000007314
Associated Conditions (53)
Myotonia
Handgrip myotonia
Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis
type 2
SCN4A-related disorder
6 conditions
Inborn genetic diseases
7 conditions
Congenital myopathy 22A
classic
Rhabdomyolysis
Delayed gross motor development
SCN4A-related non-dystrophic myotonia
Microcephaly
Limb-girdle muscular dystrophy
SCN4A-related channelopathies
+33 more conditions
Key Variants
RS1057518865
Conflicting classifications of pathogenicity
Myotonia, Handgrip myotonia, Hyperkalemic periodic paralysis
Health Risk
RS113418988
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 16, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg
Health Risk
RS113462659
Conflicting classifications of pathogenicity
Hyperkalemic periodic paralysis, SCN4A-related disorder, Hyperkalemic periodic paralysis
Health Risk
RS114900922
Conflicting classifications of pathogenicity
Hyperkalemic periodic paralysis, 6 conditions, SCN4A-related disorder
Health Risk
RS115379510
Conflicting classifications of pathogenicity
Hyperkalemic periodic paralysis, Inborn genetic diseases, Hyperkalemic periodic paralysis
Health Risk
RS118047588
Conflicting classifications of pathogenicity
Hyperkalemic periodic paralysis, 6 conditions, 7 conditions
Health Risk
RS1181083611
Conflicting classifications of pathogenicity
Hyperkalemic periodic paralysis, Congenital myopathy 22A, classic
Health Risk
RS1188070167
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 16, Hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16
Health Risk
RS1199378574
Conflicting classifications of pathogenicity
Hyperkalemic periodic paralysis, 6 conditions, Hyperkalemic periodic paralysis
Health Risk
RS1208231013
Conflicting classifications of pathogenicity
Hyperkalemic periodic paralysis, 6 conditions, Hyperkalemic periodic paralysis
Health Risk
RS121908545
Conflicting classifications of pathogenicity
Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis, Rhabdomyolysis
Health Risk
RS1244264430
Conflicting classifications of pathogenicity
Hyperkalemic periodic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16
Health Risk
All Variants (293)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS765176007 | Health Risk | Conflicting classifications of pathogenicity | Hyperkalemic periodic paralysis, 7 conditions, Hyperkalemic periodic paralysis |
| RS765721076 | Health Risk | Conflicting classifications of pathogenicity | Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 2 |
| RS766055241 | Health Risk | Conflicting classifications of pathogenicity | Hyperkalemic periodic paralysis, 7 conditions, Hyperkalemic periodic paralysis |
| RS766463226 | Health Risk | Conflicting classifications of pathogenicity | Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16 |
| RS769625349 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2 |
| RS769634298 | Health Risk | Conflicting classifications of pathogenicity | Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16, Hyperkalemic periodic paralysis |
| RS770497876 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2 |
| RS770694096 | Health Risk | Conflicting classifications of pathogenicity | Hyperkalemic periodic paralysis, Inborn genetic diseases, 7 conditions |
| RS770836153 | Health Risk | Conflicting classifications of pathogenicity | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS772552529 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg, Potassium-aggravated myotonia |
| RS772628295 | Health Risk | Conflicting classifications of pathogenicity | Hyperkalemic periodic paralysis, Inborn genetic diseases, 7 conditions |
| RS773541890 | Health Risk | Conflicting classifications of pathogenicity | Hyperkalemic periodic paralysis, 6 conditions, Hyperkalemic periodic paralysis |
| RS774183791 | Health Risk | Conflicting classifications of pathogenicity | Hyperkalemic periodic paralysis, 7 conditions, Hyperkalemic periodic paralysis |
| RS778176181 | Health Risk | Conflicting classifications of pathogenicity | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis |
| RS778661227 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2 |
| RS778820577 | Health Risk | Conflicting classifications of pathogenicity | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS779890709 | Health Risk | Conflicting classifications of pathogenicity | Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis |
| RS781028684 | Health Risk | Conflicting classifications of pathogenicity | Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16 |
| RS78592515 | Health Risk | Conflicting classifications of pathogenicity | Hyperkalemic periodic paralysis, 6 conditions, Potassium-aggravated myotonia |
| RS879253789 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome, Hyperkalemic periodic paralysis, Congenital myopathy 22A |
| RS886043595 | Health Risk | Conflicting classifications of pathogenicity | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS899627353 | Health Risk | Conflicting classifications of pathogenicity | Hyperkalemic periodic paralysis, 6 conditions, Inborn genetic diseases |
| RS912001256 | Health Risk | Conflicting classifications of pathogenicity | Myopathy, Severe neonatal hypotonia improving with age, Myopathy |
| RS1057521065 | Health Risk | Likely pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS1057524290 | Health Risk | Likely pathogenic | — |
| RS1064794596 | Health Risk | Likely pathogenic | — |
| RS121908551 | Health Risk | Likely pathogenic | Paramyotonia congenita of Von Eulenburg, SCN4A-related disorder, Hyperkalemic periodic paralysis |
| RS121908554 | Health Risk | Likely pathogenic | Paramyotonia congenita of Von Eulenburg, Paramyotonia congenita of Von Eulenburg |
| RS1287863349 | Health Risk | Likely pathogenic | Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis |
| RS1358028812 | Health Risk | Likely pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS1555601448 | Health Risk | Likely pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS1555603364 | Health Risk | Likely pathogenic | — |
| RS1567819954 | Health Risk | Likely pathogenic | — |
| RS1597978607 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita |
| RS1908593639 | Health Risk | Likely pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS1908594231 | Health Risk | Likely pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS1908668408 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 16, Congenital myasthenic syndrome 16 |
| RS1908691206 | Health Risk | Likely pathogenic | SCN4A-related non-dystrophic myotonia, SCN4A-related non-dystrophic myotonia |
| RS1909453191 | Health Risk | Likely pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS1909519361 | Health Risk | Likely pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS2144773503 | Health Risk | Likely pathogenic | SCN4A-related non-dystrophic myotonia, SCN4A-related non-dystrophic myotonia |
| RS2144773878 | Health Risk | Likely pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS2144774834 | Health Risk | Likely pathogenic | Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis |
| RS2144778785 | Health Risk | Likely pathogenic | — |
| RS2144779553 | Health Risk | Likely pathogenic | SCN4A-related non-dystrophic myotonia, SCN4A-related non-dystrophic myotonia |
| RS2144793242 | Health Risk | Likely pathogenic | Paramyotonia congenita of Von Eulenburg, Paramyotonia congenita of Von Eulenburg |
| RS2144798704 | Health Risk | Likely pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS2509285181 | Health Risk | Likely pathogenic | Paramyotonia congenita of Von Eulenburg, Paramyotonia congenita of Von Eulenburg |
| RS2509285379 | Health Risk | Likely pathogenic | Congenital myopathy 22B, severe fetal, Congenital myopathy 22B |
| RS2509289236 | Health Risk | Likely pathogenic | Congenital myopathy 22B, severe fetal, Congenital myopathy 22B |