| Variant ID | 29236 |
|---|---|
| Entrez Gene ID | 25925 |
| Gene | ZNF521 (GeneCards) |
| Location | hg19 18:22807228-22807228
hg38 18:25227264-25227264 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000018.9:g.22807228 G>A (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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs116042436 |
| EIGEN score | 1.2507 |
| CADD Raw score (version 1.3) | 0.100724 (Deleterious) |
| FATHMM raw prediction score | 0.97043 (Tolerated) |
| Deleterious probability by DeFine | 0.7664 (Deleterious) |
| Entrez Gene ID | 25925 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNF521 (GeneCards) |
| Number of variants in ZNF521 in this database | 10 (view all the variants) |
| Full name | zinc finger protein 521 |
| Band | 18q11.2 |
| Other IDs | Vega: OTTHUMG00000179511 OMIM: 610974 HGNC: HGNC:24605 Ensembl: ENSG00000198795 |
| Other names | EHZF, Evi3 |
| Summary | None |
| Individual ID | 28503910.113 (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; |