| Variant ID | 11664 |
|---|---|
| Entrez Gene ID | 9760 |
| Gene | TOX (GeneCards) |
| Location | hg19 8:61011911-61011911
hg38 8:60099352-60099352 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.61011911 C>T (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0817 |
| CADD Raw score (version 1.3) | 0.859935 (Deleterious) |
| FATHMM raw prediction score | 0.25228 (Tolerated) |
| Deleterious probability by DeFine | 0.0845 (Neutral) |
| Entrez Gene ID | 9760 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TOX (GeneCards) |
| Number of variants in TOX in this database | 17 (view all the variants) |
| Full name | thymocyte selection associated high mobility group box |
| Band | 8q12.1 |
| Other IDs | Vega: OTTHUMG00000164331 OMIM: 606863 HGNC: HGNC:18988 Ensembl: ENSG00000198846 |
| Other names | TOX1 |
| Summary | The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development.[provided by RefSeq, Apr 2009] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |