SCN10A Chromosome 3

Sodium voltage-gated channel alpha subunit 10
183 variants 183 Health Risk

Upload your DNA to see your personal genotypes for variants in SCN10A.

What This Gene Does
The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Gene Info
Gene Group
Sodium voltage-gated channel alpha subunits
Locus Type
gene with protein product
Location
3p22.2
Ensembl
ENSG00000185313
Associated Conditions (9)
Brugada syndrome
Cardiovascular phenotype
Episodic pain syndrome
familial
2
Brugada syndrome 1
SCN10A-related disorder
See cases
Hereditary sodium channelopathy-related small fibers neuropathy
Key Variants
RS112774699
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS1177831483
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS1278228854
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS1315864029
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS1324200224
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype
Health Risk
RS137906740
Conflicting classifications of pathogenicity
Brugada syndrome, Episodic pain syndrome, familial
Health Risk
RS138404783
Conflicting classifications of pathogenicity
Episodic pain syndrome, familial, 2
Health Risk
RS138751097
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS138832868
Conflicting classifications of pathogenicity
Brugada syndrome 1, Episodic pain syndrome, familial
Health Risk
RS1393646938
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype
Health Risk
RS1398369804
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS139861061
Conflicting classifications of pathogenicity
Brugada syndrome, Episodic pain syndrome, familial
Health Risk
All Variants (183)
RSID Category Clinical Significance Conditions
RS769962695 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS770047247 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS770276976 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS770389041 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS771127702 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS771158339 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype
RS771909114 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype
RS772082757 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS772484960 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Episodic pain syndrome
RS774186159 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS774336593 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype
RS774462243 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS774855939 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype
RS774893568 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS776804111 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype
RS777190579 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype
RS777258179 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS777642089 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype
RS778498254 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS778754301 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Episodic pain syndrome
RS778842299 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype
RS779692735 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, SCN10A-related disorder
RS779931477 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS780390487 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype
RS781118074 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS781705809 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS78555408 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS910678839 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS928284057 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS960602539 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS970173552 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype
RS998456008 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
RS1559414131 Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome
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