| Variant ID | 29743 |
|---|---|
| Entrez Gene ID | 6336 |
| Gene | SCN10A (GeneCards) |
| Location | hg19 3:38770255-38770255
hg38 3:38728764-38728764 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000003.11:g.38770255 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.3994 |
| CADD Raw score (version 1.3) | 1.619181 (Deleterious) |
| FATHMM raw prediction score | 0.98566 (Tolerated) |
| Deleterious probability by DeFine | 0.9213 (Deleterious) |
| Entrez Gene ID | 6336 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SCN10A (GeneCards) |
| Number of variants in SCN10A in this database | 4 (view all the variants) |
| Full name | sodium voltage-gated channel alpha subunit 10 |
| Band | 3p22.2 |
| Other IDs | Vega: OTTHUMG00000048245 OMIM: 604427 HGNC: HGNC:10582 Ensembl: ENSG00000185313 |
| Other names | PN3, SNS, hPN3, FEPS2, Nav1.8 |
| Summary | 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] |
| Individual ID | 28867142.29 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |