| Variant ID | 18003 |
|---|---|
| Entrez Gene ID | 79446 |
| Gene | WDR25 (GeneCards) |
| Location | hg19 14:100931402-100931402
hg38 14:100465065-100465065 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.100931402 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3497 |
| CADD Raw score (version 1.3) | -0.025441 (Deleterious) |
| FATHMM raw prediction score | 0.06125 (Tolerated) |
| Deleterious probability by DeFine | 0.3332 (Neutral) |
| Entrez Gene ID | 79446 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WDR25 (GeneCards) |
| Number of variants in WDR25 in this database | 3 (view all the variants) |
| Full name | WD repeat domain 25 |
| Band | 14q32.2 |
| Other IDs | Vega: OTTHUMG00000171585 HGNC: HGNC:21064 Ensembl: ENSG00000176473 |
| Other names | C14orf67 |
| Summary | This gene encodes a protein containing 7 WD repeats. WD repeats are approximately 30 to 40-amino acid domains containing several conserved residues, typically having a Tryptophan-Aspartic acid dipeptide (WD) at the C-terminal end. WD domains are involved in protein-protein interactions in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017] |
| Individual ID | 29217584.01 (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; |