| Variant ID | 997 |
|---|---|
| Entrez Gene ID | 116966 |
| Gene | WDR17 (GeneCards) |
| Location | hg19 4:177093573-177093573
hg38 4:176172422-176172422 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000004.11:g.177093573 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1089 |
| Amino acid changes in protein | A > A |
| 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 | -0.2037 |
| CADD Raw score (version 1.3) | 1.920658 (Deleterious) |
| FATHMM raw prediction score | 0.81497 (Tolerated) |
| Deleterious probability by DeFine | 0.6895 (Deleterious) |
| 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 | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |