| Variant ID | 29745 |
|---|---|
| Entrez Gene ID | 1232 |
| Gene | CCR3 (GeneCards) |
| Location | hg19 3:46307288-46307288
hg38 3:46265797-46265797 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000003.11:g.46307288 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 0.601 |
| CADD Raw score (version 1.3) | 0.965866 (Deleterious) |
| FATHMM raw prediction score | 0.33551 (Tolerated) |
| Deleterious probability by DeFine | 0.7264 (Deleterious) |
| Entrez Gene ID | 1232 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CCR3 (GeneCards) |
| Number of variants in CCR3 in this database | 3 (view all the variants) |
| Full name | C-C motif chemokine receptor 3 |
| Band | 3p21.31 |
| Other IDs | Vega: OTTHUMG00000133484 OMIM: 601268 HGNC: HGNC:1604 Ensembl: ENSG00000183625 |
| Other names | CKR3, CD193, CMKBR3, CC-CKR-3 |
| Summary | The protein encoded by this gene is a receptor for C-C type chemokines. It belongs to family 1 of the G protein-coupled receptors. This receptor binds and responds to a variety of chemokines, including eotaxin (CCL11), eotaxin-3 (CCL26), MCP-3 (CCL7), MCP-4 (CCL13), and RANTES (CCL5). It is highly expressed in eosinophils and basophils, and is also detected in TH1 and TH2 cells, as well as in airway epithelial cells. This receptor may contribute to the accumulation and activation of eosinophils and other inflammatory cells in the allergic airway. It is also known to be an entry co-receptor for HIV-1. This gene and seven other chemokine receptor genes form a chemokine receptor gene cluster on the chromosomal region 3p21. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2009] |
| Individual ID | 28867142.29 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |