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 |
|---|---|---|---|
| RS2509291006 | Health Risk | Likely pathogenic | Potassium-aggravated myotonia, Potassium-aggravated myotonia |
| RS2509291040 | Health Risk | Likely pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS2509305424 | Health Risk | Likely pathogenic | SCN4A-related disorder, SCN4A-related disorder |
| RS2509313987 | Health Risk | Likely pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS2509324687 | Health Risk | Likely pathogenic | SCN4A-related disorder, SCN4A-related disorder |
| RS2509325722 | Health Risk | Likely pathogenic | SCN4A-related disorder, SCN4A-related disorder |
| RS772873287 | Health Risk | Likely pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS774453167 | Health Risk | Likely pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS777998706 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 16, Congenital myasthenic syndrome 16 |
| RS80338956 | Health Risk | Likely pathogenic | Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis, SCN4A-related non-dystrophic myotonia |
| RS867587467 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS897448432 | Health Risk | Likely pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS1057520846 | Health Risk | Pathogenic | — |
| RS121908544 | Health Risk | Pathogenic | Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis |
| RS121908547 | Health Risk | Pathogenic | Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis, 6 conditions |
| RS121908548 | Health Risk | Pathogenic | Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis |
| RS121908549 | Health Risk | Pathogenic | Myotonia congenita, atypical, acetazolamide-responsive |
| RS121908550 | Health Risk | Pathogenic | Paramyotonia congenita of Von Eulenburg, SCN4A-related non-dystrophic myotonia, Paramyotonia congenita of Von Eulenburg |
| RS121908555 | Health Risk | Pathogenic | Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis |
| RS121908557 | Health Risk | Pathogenic | Normokalemic periodic paralysis, potassium-sensitive, Hyperkalemic periodic paralysis |
| RS121908560 | Health Risk | Pathogenic | Paramyotonia congenita/hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg, Paramyotonia congenita/hyperkalemic periodic paralysis |
| RS121908561 | Health Risk | Pathogenic | Paramyotonia congenita of Von Eulenburg, Paramyotonia congenita of Von Eulenburg |
| RS1331907655 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS1555603671 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS1567816549 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS1597985462 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS1598405334 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, SCN4A-related disorder, Hyperkalemic periodic paralysis |
| RS1598406692 | Health Risk | Pathogenic | Congenital myasthenic syndrome 16, Congenital myasthenic syndrome 16 |
| RS1908916380 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS1909596551 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS1909597270 | Health Risk | Pathogenic | Congenital myasthenic syndrome 16, Congenital myasthenic syndrome 16 |
| RS1909650741 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS2144782598 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS2144786506 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS2144798676 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS2509284285 | Health Risk | Pathogenic | Congenital myopathy 22B, severe fetal, Congenital myopathy 22B |
| RS2509285055 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS2509285308 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS2509287979 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS2509290730 | Health Risk | Pathogenic | Congenital myopathy 22A, classic, Congenital myopathy 22A |
| RS2509293167 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS2509308046 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS2509314301 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS2509315709 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS2509317969 | Health Risk | Pathogenic | Congenital myopathy 22B, severe fetal, Congenital myopathy 22B |
| RS2509318035 | Health Risk | Pathogenic | Congenital myopathy 22A, classic, Congenital myopathy 22A |
| RS2509318698 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS527236150 | Health Risk | Pathogenic | Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis |
| RS557322255 | Health Risk | Pathogenic | Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis |
| RS752611838 | Health Risk | Pathogenic | — |