| Variant ID | 18046 |
|---|---|
| Entrez Gene ID | 8115 |
| Gene | TCL1A (GeneCards) |
| Location | hg19 14:96211650-96211650
hg38 14:95745313-95745313 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.96211650 G>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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0265 |
| CADD Raw score (version 1.3) | 0.229879 (Deleterious) |
| FATHMM raw prediction score | 0.11553 (Tolerated) |
| Deleterious probability by DeFine | 0.4306 (Neutral) |
| Entrez Gene ID | 8115 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TCL1A (GeneCards) |
| Number of variants in TCL1A in this database | 2 (view all the variants) |
| Full name | T cell leukemia/lymphoma 1A |
| Band | 14q32.13 |
| Other IDs | Vega: OTTHUMG00000171390 OMIM: 186960 HGNC: HGNC:11648 Ensembl: ENSG00000100721 |
| Other names | TCL1 |
| Summary | Overexpression of the TCL1 gene in humans has been implicated in the development of mature T cell leukemia, in which chromosomal rearrangements bring the TCL1 gene in close proximity to the T-cell antigen receptor (TCR)-alpha (MIM 186880) or TCR-beta (MIM 186930) regulatory elements (summarized by Virgilio et al., 1998 [PubMed 9520462]). In normal T cells TCL1 is expressed in CD4-/CD8- cells, but not in cells at later stages of differentiation. TCL1 functions as a coactivator of the cell survival kinase AKT (MIM 164730) (Laine et al., 2000 [PubMed 10983986]).[supplied by OMIM, Jul 2010] |
| 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; |