| Variant ID | 4370 |
|---|---|
| Entrez Gene ID | 7852 |
| Gene | CXCR4 (GeneCards) |
| Location | hg19 2:136989892-136989892
hg38 2:136232322-136232322 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.136989892 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0152 |
| CADD Raw score (version 1.3) | 0.045499 (Deleterious) |
| FATHMM raw prediction score | 0.1258 (Tolerated) |
| Deleterious probability by DeFine | 0.3957 (Neutral) |
| Entrez Gene ID | 7852 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CXCR4 (GeneCards) |
| Number of variants in CXCR4 in this database | 13 (view all the variants) |
| Full name | C-X-C motif chemokine receptor 4 |
| Band | 2q22.1 |
| Other IDs | Vega: OTTHUMG00000153583 OMIM: 162643 HGNC: HGNC:2561 Ensembl: ENSG00000121966 |
| Other names | FB22, HM89, LAP3, LCR1, NPYR, WHIM, CD184, LAP-3, LESTR, NPY3R, NPYRL, WHIMS, HSY3RR, NPYY3R, D2S201E |
| Summary | This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [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; |