| Variant ID | 17530 |
|---|---|
| Entrez Gene ID | 1602 |
| Gene | DACH1 (GeneCards) |
| Location | hg19 13:73104630-73104630
hg38 13:72530492-72530492 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.73104630 T>C (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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.051 |
| CADD Raw score (version 1.3) | 0.076758 (Deleterious) |
| FATHMM raw prediction score | 0.10409 (Tolerated) |
| Deleterious probability by DeFine | 0.5896 (Deleterious) |
| Entrez Gene ID | 1602 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DACH1 (GeneCards) |
| Number of variants in DACH1 in this database | 12 (view all the variants) |
| Full name | dachshund family transcription factor 1 |
| Band | 13q21.33 |
| Other IDs | Vega: OTTHUMG00000017063 OMIM: 603803 HGNC: HGNC:2663 Ensembl: ENSG00000276644 |
| Other names | DACH |
| Summary | This gene encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein contains a Ski domain that is highly conserved from Drosophila to human. Expression of this gene is lost in some forms of metastatic cancer, and is correlated with poor prognosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] |
| Individual ID | 29217584.11 (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; |