| Variant ID | 18173 |
|---|---|
| Entrez Gene ID | 8816 |
| Gene | DCAF5 (GeneCards) |
| Location | hg19 14:69595331-69595331
hg38 14:69128614-69128614 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.69595331 A>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 | 0.0068 |
| CADD Raw score (version 1.3) | 0.335182 (Deleterious) |
| FATHMM raw prediction score | 0.14149 (Tolerated) |
| Deleterious probability by DeFine | 0.2641 (Neutral) |
| Entrez Gene ID | 8816 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DCAF5 (GeneCards) |
| Number of variants in DCAF5 in this database | 2 (view all the variants) |
| Full name | DDB1 and CUL4 associated factor 5 |
| Band | 14q24.1 |
| Other IDs | Vega: OTTHUMG00000171699 OMIM: 603812 HGNC: HGNC:20224 Ensembl: ENSG00000139990 |
| Other names | BCRG2, BCRP2, WDR22, D14S1461E |
| Summary | None |
| Individual ID | 29217584.07 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |