| Variant ID | 18044 |
|---|---|
| Entrez Gene ID | 7011 |
| Gene | TEP1 (GeneCards) |
| Location | hg19 14:20888492-20888492
hg38 14:20420333-20420333 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.20888492 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 | -0.3337 |
| CADD Raw score (version 1.3) | -0.002596 (Deleterious) |
| FATHMM raw prediction score | 0.06679 (Tolerated) |
| Deleterious probability by DeFine | 0.0577 (Neutral) |
| Entrez Gene ID | 7011 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TEP1 (GeneCards) |
| Number of variants in TEP1 in this database | 2 (view all the variants) |
| Full name | telomerase associated protein 1 |
| Band | 14q11.2 |
| Other IDs | Vega: OTTHUMG00000029515 OMIM: 601686 HGNC: HGNC:11726 Ensembl: ENSG00000129566 |
| Other names | TP1, TLP1, p240, TROVE1, VAULT2 |
| Summary | This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] |
| 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; |