| Variant ID | 2699 |
|---|---|
| Entrez Gene ID | 1600 |
| Gene | DAB1 (GeneCards) |
| Location | hg19 1:58037550-58037550
hg38 1:57571878-57571878 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.58037550 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0591 |
| CADD Raw score (version 1.3) | 0.303196 (Deleterious) |
| FATHMM raw prediction score | 0.11669 (Tolerated) |
| Deleterious probability by DeFine | 0.6588 (Deleterious) |
| Entrez Gene ID | 1600 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DAB1 (GeneCards) |
| Number of variants in DAB1 in this database | 15 (view all the variants) |
| Full name | DAB1, reelin adaptor protein |
| Band | 1p32.2 |
| Other IDs | Vega: OTTHUMG00000008391 OMIM: 603448 HGNC: HGNC:2661 Ensembl: ENSG00000173406 |
| Other names | SCA37 |
| Summary | The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain. [provided by RefSeq, Jan 2017] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |