Gene entry
SCN9A
sodium voltage-gated channel alpha subunit 9
- Chromosome
- 2
- Cytoband
- 2q24.3
- Variants (rsID)
- 57
SCN9A 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 9”. The reference table lists 57 variants (rsID) for this gene.
Clinically classified variants
27 reference-table entries with clinical significance.
- rs12478318Benignsingle nucleotide variantChannelopathy-associated congenital insensitivity to pain, autosomal recessive|Generalized epilepsy with febrile seizures plus, type 7|Neuropathy, hereditary sensory and autonomic, type 2A|Neuropathy, hereditary sensory and autonomic, type 2A|Primary erythromelalgia|Paroxysmal extreme pain disorder
- rs149707354Benignsingle nucleotide variantParoxysmal extreme pain disorder|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Primary erythromelalgia|Inherited Erythromelalgia|Neuropathy, hereditary sensory and autonomic, type 2A|Generalized epilepsy with febrile seizures plus, type 7|Neuropathy, hereditary sensory and autonomic, type 2A
- rs187526567Benignsingle nucleotide variantChannelopathy-associated congenital insensitivity to pain, autosomal recessive|Paroxysmal extreme pain disorder|Small fiber neuropathy|Primary erythromelalgia|Generalized epilepsy with febrile seizures plus, type 7|Neuropathy, hereditary sensory and autonomic, type 2A
- rs202055175Benignsingle nucleotide variantChannelopathy-associated congenital insensitivity to pain, autosomal recessive|Paroxysmal extreme pain disorder|Primary erythromelalgia|Inherited Erythromelalgia|Generalized epilepsy with febrile seizures plus, type 7|Neuropathy, hereditary sensory and autonomic, type 2A
- rs41268673Benignsingle nucleotide variantPrimary erythromelalgia|Inherited Erythromelalgia|Neuropathy, hereditary sensory and autonomic, type 2A|Generalized epilepsy with febrile seizures plus, type 7|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Paroxysmal extreme pain disorder
- rs6746030Benignsingle nucleotide variantPrimary erythromelalgia|Generalized epilepsy with febrile seizures plus, type 7|Neuropathy, hereditary sensory and autonomic, type 2A
- rs73969684Benignsingle nucleotide variantParoxysmal extreme pain disorder|Small fiber neuropathy|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Primary erythromelalgia|Generalized epilepsy with febrile seizures plus, type 7|Neuropathy, hereditary sensory and autonomic, type 2A
- rs121908919Conflicting interpretationssingle nucleotide variantGeneralized epilepsy with febrile seizures plus, type 7|Global developmental delay|Hypoglycemia|Seizure|Generalized epilepsy with febrile seizures plus, type 7|Neuropathy, hereditary sensory and autonomic, type 2A|Primary erythromelalgia|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Paroxysmal extreme pain disorder
- rs141268327Conflicting interpretationssingle nucleotide variantSevere myoclonic epilepsy in infancy|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Inherited Erythromelalgia|Paroxysmal extreme pain disorder|Neuropathy, hereditary sensory and autonomic, type 2A|Primary erythromelalgia|Primary erythromelalgia|Severe myoclonic epilepsy in infancy|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|Generalized epilepsy with febrile seizures plus, type 7
- rs144941725Conflicting interpretationssingle nucleotide variantPrimary erythromelalgia|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Small fiber neuropathy|Paroxysmal extreme pain disorder|Neuropathy, hereditary sensory and autonomic, type 2A|Generalized epilepsy with febrile seizures plus, type 7
- rs147623238Conflicting interpretationssingle nucleotide variantNeuropathy, hereditary sensory and autonomic, type 2A|Generalized epilepsy with febrile seizures plus, type 7
- rs151241025Conflicting interpretationssingle nucleotide variantNeuropathy, hereditary sensory and autonomic, type 2A|Generalized epilepsy with febrile seizures plus, type 7
- rs182650126Conflicting interpretationssingle nucleotide variantSmall fiber neuropathy|Inherited Erythromelalgia|Paroxysmal extreme pain disorder|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Neuropathy, hereditary sensory and autonomic, type 2A|Generalized epilepsy with febrile seizures plus, type 7|Neuropathy, hereditary sensory and autonomic, type 2A|Primary erythromelalgia
- rs184773311Conflicting interpretationssingle nucleotide variantNeuropathy, hereditary sensory and autonomic, type 2A|Generalized epilepsy with febrile seizures plus, type 7
- rs187453572Conflicting interpretationssingle nucleotide variantSmall fiber neuropathy|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Primary erythromelalgia|Paroxysmal extreme pain disorder|Neuropathy, hereditary sensory and autonomic, type 2A|Generalized epilepsy with febrile seizures plus, type 7|Seizure|Generalized epilepsy with febrile seizures plus, type 7
- rs188145203Conflicting interpretationssingle nucleotide variantPrimary erythromelalgia|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Small fiber neuropathy|Paroxysmal extreme pain disorder|Generalized epilepsy with febrile seizures plus, type 7|Neuropathy, hereditary sensory and autonomic, type 2A
- rs199692186Conflicting interpretationssingle nucleotide variantPrimary erythromelalgia|Paroxysmal extreme pain disorder|Small fiber neuropathy|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Childhood epilepsy with centrotemporal spikes|Neuropathy, hereditary sensory and autonomic, type 2A|Generalized epilepsy with febrile seizures plus, type 7
- rs200014315Conflicting interpretationssingle nucleotide variantParoxysmal extreme pain disorder|Primary erythromelalgia|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Small fiber neuropathy|Neuropathy, hereditary sensory and autonomic, type 2A|Generalized epilepsy with febrile seizures plus, type 7
- rs200065104Conflicting interpretationssingle nucleotide variantNeuropathy, hereditary sensory and autonomic, type 2A|Generalized epilepsy with febrile seizures plus, type 7
- rs200682458Conflicting interpretationssingle nucleotide variantPrimary erythromelalgia|Paroxysmal extreme pain disorder|Inherited Erythromelalgia|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Neuropathy, hereditary sensory and autonomic, type 2A|Generalized epilepsy with febrile seizures plus, type 7
- rs200945460Conflicting interpretationssingle nucleotide variantSmall fiber neuropathy|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
- rs71428908Conflicting interpretationssingle nucleotide variant6 conditions|Neuropathy, hereditary sensory and autonomic, type 2A|Generalized epilepsy with febrile seizures plus, type 7|Primary erythromelalgia|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Paroxysmal extreme pain disorder|Neuropathy, hereditary sensory and autonomic, type 2A
- rs79805025Conflicting interpretationssingle nucleotide variantParoxysmal extreme pain disorder|Primary erythromelalgia|Small fiber neuropathy|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Generalized epilepsy with febrile seizures plus, type 7|Neuropathy, hereditary sensory and autonomic, type 2A
- rs267607030Likely benignsingle nucleotide variantPrimary erythromelalgia|Channelopathy-associated congenital insensitivity to pain, autosomal recessive|Inherited Erythromelalgia|Paroxysmal extreme pain disorder|Neuropathy, hereditary sensory and autonomic, type 2A|Generalized epilepsy with febrile seizures plus, type 7
- rs121908920Uncertain significancesingle nucleotide variantFebrile seizures, familial, 3b|Generalized epilepsy with febrile seizures plus, type 7|Neuropathy, hereditary sensory and autonomic, type 2A|6 conditions
- rs147639592Uncertain significancesingle nucleotide variantNeuropathy, hereditary sensory and autonomic, type 2A|Generalized epilepsy with febrile seizures plus, type 7
- rs192406412Uncertain significancesingle nucleotide variantGeneralized epilepsy with febrile seizures plus, type 7|Neuropathy, hereditary sensory and autonomic, type 2A|6 conditions|Generalized epilepsy with febrile seizures plus, type 7
Other listed variants
- rs1919177
- rs3924001
- rs4426541
- rs6714902
- rs6750593
- rs6758728
- rs7558866
- rs7596100
- rs7607896
- rs10754969
- rs11688584
- rs12619279
- rs12994338
- rs13017637
- rs16851943
- rs16851966
- rs56300005
- rs62178525
- rs71428906
- rs74703759
- rs78916810
- rs112347596
- rs114926041
- rs115099720
- rs115296829
- rs116017241
- rs116188445
- rs148713442
- rs183942156
- rs368055368
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.