| Variant ID | 29281 |
|---|---|
| Entrez Gene ID | 1826 |
| Gene | DSCAM (GeneCards) |
| Location | hg19 21:41550838-41550838
hg38 21:40178911-40178911 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000021.8:g.41550838 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2376 |
| CADD Raw score (version 1.3) | -0.050533 (Deleterious) |
| FATHMM raw prediction score | 0.13935 (Tolerated) |
| Deleterious probability by DeFine | 0.7964 (Deleterious) |
| Entrez Gene ID | 1826 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DSCAM (GeneCards) |
| Number of variants in DSCAM in this database | 12 (view all the variants) |
| Full name | DS cell adhesion molecule |
| Band | 21q22.2 |
| Other IDs | Vega: OTTHUMG00000086732 OMIM: 602523 HGNC: HGNC:3039 Ensembl: ENSG00000171587 |
| Other names | CHD2, CHD2-42, CHD2-52 |
| Summary | This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] |
| Individual ID | 28503910.158 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |