| Variant ID | 29303 |
|---|---|
| Entrez Gene ID | 83889 |
| Gene | WDR87 (GeneCards) |
| Location | hg19 19:38379997-38379997
hg38 19:37889357-37889357 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000019.9:g.38379997 T>C (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0474 |
| CADD Raw score (version 1.3) | -0.585575 (Deleterious) |
| FATHMM raw prediction score | 0.18228 (Tolerated) |
| Deleterious probability by DeFine | 0.5372 (Deleterious) |
| Entrez Gene ID | 83889 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WDR87 (GeneCards) |
| Number of variants in WDR87 in this database | 4 (view all the variants) |
| Full name | WD repeat domain 87 |
| Band | 19q13.13 |
| Other IDs | Vega: OTTHUMG00000048187 HGNC: HGNC:29934 Ensembl: ENSG00000171804 |
| Other names | NYD-SP11 |
| Summary | None |
| Individual ID | 28503910.180 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |