| Variant ID | 13723 |
|---|---|
| Entrez Gene ID | 7088 |
| Gene | TLE1 (GeneCards) |
| Location | hg19 9:84304241-84304241
hg38 9:81689326-81689326 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.84304241 T>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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.5409 |
| CADD Raw score (version 1.3) | 1.453607 (Deleterious) |
| FATHMM raw prediction score | 0.28445 (Tolerated) |
| Deleterious probability by DeFine | 0.7158 (Deleterious) |
| Entrez Gene ID | 7088 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TLE1 (GeneCards) |
| Number of variants in TLE1 in this database | 2 (view all the variants) |
| Full name | transducin like enhancer of split 1 |
| Band | 9q21.32 |
| Other IDs | Vega: OTTHUMG00000021008 OMIM: 600189 HGNC: HGNC:11837 Ensembl: ENSG00000196781 |
| Other names | ESG, ESG1, GRG1 |
| Summary | None |
| Individual ID | 29217584.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |