| Variant ID | 18622 |
|---|---|
| Entrez Gene ID | 145508 |
| Gene | CEP128 (GeneCards) |
| Location | hg19 14:81340692-81340692
hg38 14:80874348-80874348 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.81340692 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3038 |
| CADD Raw score (version 1.3) | 0.105931 (Deleterious) |
| FATHMM raw prediction score | 0.07704 (Tolerated) |
| Deleterious probability by DeFine | 0.0673 (Neutral) |
| Entrez Gene ID | 145508 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CEP128 (GeneCards) |
| Number of variants in CEP128 in this database | 6 (view all the variants) |
| Full name | centrosomal protein 128 |
| Band | 14q31.1 |
| Other IDs | Vega: OTTHUMG00000171442 HGNC: HGNC:20359 Ensembl: ENSG00000100629 |
| Other names | C14orf61, LEDP/132, C14orf145 |
| Summary | None |
| 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; |