| Variant ID | 4250 |
|---|---|
| Entrez Gene ID | 130749 |
| Gene | CPO (GeneCards) |
| Location | hg19 2:207876049-207876049
hg38 2:207011325-207011325 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.207876049 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 | 0.2919 |
| CADD Raw score (version 1.3) | 0.741304 (Deleterious) |
| FATHMM raw prediction score | 0.15307 (Tolerated) |
| Deleterious probability by DeFine | 0.6241 (Deleterious) |
| Entrez Gene ID | 130749 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CPO (GeneCards) |
| Number of variants in CPO in this database | 3 (view all the variants) |
| Full name | carboxypeptidase O |
| Band | 2q33.3 |
| Other IDs | Vega: OTTHUMG00000088987 OMIM: 609563 HGNC: HGNC:21011 Ensembl: ENSG00000144410 |
| Other names | None |
| Summary | This gene is a member of the metallocarboxypeptidase gene family. [provided by RefSeq, Jan 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; |