| Variant ID | 29447 |
|---|---|
| Entrez Gene ID | 147687 |
| Gene | ZNF417 (GeneCards) |
| Location | hg19 19:58427771-58427771
hg38 19:57916403-57916403 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000019.9:g.58427771 C>T (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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | 0.9027 |
| CADD Raw score (version 1.3) | 1.790595 (Deleterious) |
| FATHMM raw prediction score | 0.09026 (Tolerated) |
| Deleterious probability by DeFine | 0.8449 (Deleterious) |
| Entrez Gene ID | 147687 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNF417 (GeneCards) |
| Number of variants in ZNF417 in this database | 1 (view all the variants) |
| Full name | zinc finger protein 417 |
| Band | 19q13.43 |
| Other IDs | Vega: OTTHUMG00000183488 HGNC: HGNC:20646 Ensembl: ENSG00000173480 |
| Other names | None |
| Summary | None |
| Individual ID | 28714951.123 (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; |