| Variant ID | 1082 |
|---|---|
| Entrez Gene ID | 6335 |
| Gene | SCN9A (GeneCards) |
| Location | hg19 2:167056342-167056342
hg38 2:166199832-166199832 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.167056342 A>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1592 |
| Amino acid changes in protein | F > V |
| 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 | 0.8947 |
| CADD Raw score (version 1.3) | 4.971023 (Deleterious) |
| FATHMM raw prediction score | 0.99222 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.435 (Deleterious) |
| PROVEAN score | -6.32 (Deleterious) |
| MetaSVM score | 1.101 (Deleterious) |
| MetaLR score | 0.966 (Deleterious) |
| MCAP score | 0.555 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.74 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.196 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.025 |
| Deleterious probability by iFish2 | 0.9956 (Deleterious) |
| Deleterious probability by DeFine | 0.9189 (Deleterious) |
| 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 | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |