| Variant ID | 21793 |
|---|---|
| Entrez Gene ID | 1826 |
| Gene | DSCAM (GeneCards) |
| Location | hg19 21:42032969-42032969
hg38 21:40661043-40661043 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000021.8:g.42032969 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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.068 |
| CADD Raw score (version 1.3) | 0.237596 (Deleterious) |
| FATHMM raw prediction score | 0.19601 (Tolerated) |
| Deleterious probability by DeFine | 0.4351 (Neutral) |
| 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 | 29217584.20 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |