| Variant ID | 22375 |
|---|---|
| Entrez Gene ID | 117154 |
| Gene | DACH2 (GeneCards) |
| Location | hg19 X:85811584-85811584
hg38 X:86556581-86556581 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.85811584 G>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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.120725 (Deleterious) |
| FATHMM raw prediction score | 0.0953 (Tolerated) |
| Deleterious probability by DeFine | 0.1852 (Neutral) |
| Entrez Gene ID | 117154 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DACH2 (GeneCards) |
| Number of variants in DACH2 in this database | 15 (view all the variants) |
| Full name | dachshund family transcription factor 2 |
| Band | Xq21.2 |
| Other IDs | Vega: OTTHUMG00000021944 OMIM: 300608 HGNC: HGNC:16814 Ensembl: ENSG00000126733 |
| Other names | None |
| Summary | This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly. The encoded protein contains two characteristic dachshund domains: an N-terminal domain responsible for DNA binding and a C-terminal domain responsible for protein-protein interactions. This gene is located on the X chromosome and is subject to inactivation by DNA methylation. The encoded protein may be involved in regulation of organogenesis and myogenesis, and may play a role in premature ovarian failure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |