SCN9A Chromosome 2
Sodium voltage-gated channel alpha subunit 9
Upload your DNA to see your personal genotypes for variants in SCN9A.
What This Gene Does
This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]
Gene Info
Gene Group
Sodium voltage-gated channel alpha subunits
Locus Type
gene with protein product
Location
2q24.3
Ensembl
ENSG00000169432
Associated Conditions (29)
Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain
autosomal recessive
Paroxysmal extreme pain disorder
Generalized epilepsy with febrile seizures plus
type 7
Neuropathy
hereditary sensory and autonomic
type 2A
Inborn genetic diseases
SCN9A-related disorder
Severe myoclonic epilepsy in infancy
Hereditary ataxia
Self-limited epilepsy with centrotemporal spikes
Small fiber neuropathy
Seizure
6 conditions
Pain insensitivity
Epilepsy
type IId
+9 more conditions
Key Variants
RS1018959938
Conflicting classifications of pathogenicity
Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Health Risk
RS111674454
Conflicting classifications of pathogenicity
Generalized epilepsy with febrile seizures plus, type 7, Neuropathy
Health Risk
RS113161460
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2A
Health Risk
RS1177414657
Conflicting classifications of pathogenicity
Generalized epilepsy with febrile seizures plus, type 7, Neuropathy
Health Risk
RS1207290572
Conflicting classifications of pathogenicity
Generalized epilepsy with febrile seizures plus, type 7, Neuropathy
Health Risk
RS121908910
Conflicting classifications of pathogenicity
Paroxysmal extreme pain disorder, Generalized epilepsy with febrile seizures plus, type 7
Health Risk
RS121908916
Conflicting classifications of pathogenicity
Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Generalized epilepsy with febrile seizures plus
Health Risk
RS121908918
Conflicting classifications of pathogenicity
Generalized epilepsy with febrile seizures plus, type 7, Neuropathy
Health Risk
RS1321452733
Conflicting classifications of pathogenicity
Generalized epilepsy with febrile seizures plus, type 7, Neuropathy
Health Risk
RS1362318488
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2A
Health Risk
RS1384581509
Conflicting classifications of pathogenicity
Generalized epilepsy with febrile seizures plus, type 7, Neuropathy
Health Risk
RS1392264337
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2A
Health Risk
All Variants (284)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1309621904 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS1471163637 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy |
| RS1553472910 | Health Risk | Likely pathogenic | — |
| RS1553495048 | Health Risk | Likely pathogenic | Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive |
| RS1559030991 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS1574706911 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS1574843584 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS1574906521 | Health Risk | Likely pathogenic | — |
| RS1697328487 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS1698219355 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy |
| RS1698733988 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy |
| RS199828294 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS2106383164 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy |
| RS2106395478 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS2106469561 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS2106486889 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy |
| RS2467982175 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS2467986204 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS2468003378 | Health Risk | Likely pathogenic | Primary erythromelalgia, Primary erythromelalgia |
| RS2468024864 | Health Risk | Likely pathogenic | Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Channelopathy-associated congenital insensitivity to pain |
| RS2468039380 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS2468153527 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS532631248 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy |
| RS560913943 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy |
| RS746241591 | Health Risk | Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy |
| RS770416478 | Health Risk | Likely pathogenic | — |
| RS80356473 | Health Risk | Likely pathogenic | Primary erythromelalgia, Primary erythromelalgia |
| RS876661206 | Health Risk | Likely pathogenic | — |
| RS879254102 | Health Risk | Likely pathogenic | — |
| RS975329861 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS999645687 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS1057518162 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy |
| RS1057518900 | Health Risk | Pathogenic | Pain insensitivity, Generalized epilepsy with febrile seizures plus, type 7 |
| RS121908908 | Health Risk | Pathogenic | Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Channelopathy-associated congenital insensitivity to pain |
| RS121908909 | Health Risk | Pathogenic | Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Channelopathy-associated congenital insensitivity to pain |
| RS121908911 | Health Risk | Pathogenic | Paroxysmal extreme pain disorder, Paroxysmal extreme pain disorder |
| RS121908912 | Health Risk | Pathogenic | Paroxysmal extreme pain disorder, Paroxysmal extreme pain disorder |
| RS121908915 | Health Risk | Pathogenic | Paroxysmal extreme pain disorder, Generalized epilepsy with febrile seizures plus, type 7 |
| RS121908917 | Health Risk | Pathogenic | Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Channelopathy-associated congenital insensitivity to pain |
| RS1263863618 | Health Risk | Pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS1317855790 | Health Risk | Pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS1320568689 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy |
| RS1323162486 | Health Risk | Pathogenic | Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Channelopathy-associated congenital insensitivity to pain |
| RS1329907808 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy |
| RS1344477568 | Health Risk | Pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS1411870484 | Health Risk | Pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS142219317 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy |
| RS1448265143 | Health Risk | Pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS1553473186 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 7, Neuropathy |
| RS1553474394 | Health Risk | Pathogenic | Paroxysmal extreme pain disorder, Paroxysmal extreme pain disorder |