| Variant ID | 24795 |
|---|---|
| Entrez Gene ID | 6335 |
| Gene | SCN9A (GeneCards) |
| Location | hg19 2:167166227-167166227
hg38 2:166309717-166309717 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000002.11:g.167166227 C>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2238 |
| CADD Raw score (version 1.3) | -0.139085 (Deleterious) |
| FATHMM raw prediction score | 0.12136 (Tolerated) |
| Deleterious probability by DeFine | 0.0836 (Neutral) |
| Entrez Gene ID | 6335 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SCN9A (GeneCards) |
| Number of variants in SCN9A in this database | 2 (view all the variants) |
| Full name | sodium voltage-gated channel alpha subunit 9 |
| Band | 2q24.3 |
| Other IDs | Vega: OTTHUMG00000154044 OMIM: 603415 HGNC: HGNC:10597 Ensembl: ENSG00000169432 |
| Other names | PN1, ETHA, NENA, SFNP, FEB3B, NE-NA, GEFSP7, HSAN2D, Nav1.7 |
| Summary | 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] |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |