| Variant ID | 8966 |
|---|---|
| Entrez Gene ID | 55809 |
| Gene | TRERF1 (GeneCards) |
| Location | hg19 6:42377861-42377861
hg38 6:42410123-42410123 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.42377861 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003232 |
|---|---|
| EIGEN score | 0.0878 |
| CADD Raw score (version 1.3) | 0.132895 (Deleterious) |
| FATHMM raw prediction score | 0.06208 (Tolerated) |
| Deleterious probability by DeFine | 0.4305 (Neutral) |
| Entrez Gene ID | 55809 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TRERF1 (GeneCards) |
| Number of variants in TRERF1 in this database | 4 (view all the variants) |
| Full name | transcriptional regulating factor 1 |
| Band | 6p21.1 |
| Other IDs | Vega: OTTHUMG00000014698 OMIM: 610322 HGNC: HGNC:18273 Ensembl: ENSG00000124496 |
| Other names | RAPA, BCAR2, TREP132, TReP-132, HSA277276, dJ139D8.5 |
| Summary | This gene encodes a zinc-finger transcriptional regulating protein which interacts with CBP/p300 to regulate the human gene CYP11A1. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] |
| 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; |