| Variant ID | 22840 |
|---|---|
| Entrez Gene ID | 116966 |
| Gene | WDR17 (GeneCards) |
| Location | hg19 4:177084809-177084809
hg38 4:176163658-176163658 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000004.11:g.177084809 T>G (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2496 |
| CADD Raw score (version 1.3) | -0.024138 (Deleterious) |
| FATHMM raw prediction score | 0.09029 (Tolerated) |
| Deleterious probability by DeFine | 0.4478 (Neutral) |
| Entrez Gene ID | 116966 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WDR17 (GeneCards) |
| Number of variants in WDR17 in this database | 2 (view all the variants) |
| Full name | WD repeat domain 17 |
| Band | 4q34.2 |
| Other IDs | Vega: OTTHUMG00000160791 OMIM: 609005 HGNC: HGNC:16661 Ensembl: ENSG00000150627 |
| Other names | None |
| Summary | This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2009] |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |