| Variant ID | 22281 |
|---|---|
| Entrez Gene ID | 53336 |
| Gene | CPXCR1 (GeneCards) |
| Location | hg19 X:88449765-88449765
hg38 X:89194766-89194766 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.88449765 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.069101 (Deleterious) |
| FATHMM raw prediction score | 0.06607 (Tolerated) |
| Deleterious probability by DeFine | 0.0877 (Neutral) |
| Entrez Gene ID | 53336 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CPXCR1 (GeneCards) |
| Number of variants in CPXCR1 in this database | 4 (view all the variants) |
| Full name | CPX chromosome region, candidate 1 |
| Band | Xq21.31 |
| Other IDs | Vega: OTTHUMG00000021950 HGNC: HGNC:2332 Ensembl: ENSG00000147183 |
| Other names | CT77 |
| Summary | This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) disorder. The encoded protein contains a motif similar to a motif found in zinc-finger proteins. Mutation analysis of this gene has not revealed any mutation which causes the CPX disorder. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011] |
| Individual ID | 29217584.16 (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; |