| Variant ID | 29384 |
|---|---|
| Entrez Gene ID | 152687 |
| Gene | ZNF595 (GeneCards) |
| Location | hg19 4:59964-59964
hg38 4:60071-60071 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000004.11:g.59964 T>C (Genome Assembly: hg19) |
| 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) | 0.0000323 |
|---|---|
| EIGEN score | -0.6096 |
| CADD Raw score (version 1.3) | -0.98781 (Deleterious) |
| FATHMM raw prediction score | 0.07155 (Tolerated) |
| Deleterious probability by DeFine | 0.1755 (Neutral) |
| Entrez Gene ID | 152687 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNF595 (GeneCards) |
| Number of variants in ZNF595 in this database | 1 (view all the variants) |
| Full name | zinc finger protein 595 |
| Band | 4p16.3 |
| Other IDs | Vega: OTTHUMG00000159865 HGNC: HGNC:27196 Ensembl: ENSG00000272602 |
| Other names | None |
| Summary | This gene encodes a protein belonging to the Cys2His2 zinc finger protein family, whose members function as transcription factors that can regulate a broad variety of developmental and cellular processes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Oct 2013] |
| Individual ID | 28714951.60 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |