| Variant ID | 5780 |
|---|---|
| Entrez Gene ID | 131450 |
| Gene | CD200R1 (GeneCards) |
| Location | hg19 3:112680573-112680573
hg38 3:112961726-112961726 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.112680573 G>A (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0282 |
| CADD Raw score (version 1.3) | 0.496756 (Deleterious) |
| FATHMM raw prediction score | 0.09675 (Tolerated) |
| Deleterious probability by DeFine | 0.1822 (Neutral) |
| Entrez Gene ID | 131450 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CD200R1 (GeneCards) |
| Number of variants in CD200R1 in this database | 3 (view all the variants) |
| Full name | CD200 receptor 1 |
| Band | 3q13.2 |
| Other IDs | Vega: OTTHUMG00000159298 OMIM: 607546 HGNC: HGNC:24235 Ensembl: ENSG00000163606 |
| Other names | OX2R, MOX2R, CD200R, HCRTR2 |
| Summary | This gene encodes a receptor for the OX-2 membrane glycoprotein. Both the receptor and substrate are cell surface glycoproteins containing two immunoglobulin-like domains. This receptor is restricted to the surfaces of myeloid lineage cells and the receptor-substrate interaction may function as a myeloid downregulatory signal. Mouse studies of a related gene suggest that this interaction may control myeloid function in a tissue-specific manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] |
| 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; |