| Variant ID | 29581 |
|---|---|
| Entrez Gene ID | 7761 |
| Gene | ZNF214 (GeneCards) |
| Location | hg19 11:7021423-7021423
hg38 11:7000192-7000192 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.7021423 G>A (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9352 |
| CADD Raw score (version 1.3) | 0.835946 (Deleterious) |
| FATHMM raw prediction score | 0.95959 (Tolerated) |
| Deleterious probability by DeFine | 0.7369 (Deleterious) |
| Entrez Gene ID | 7761 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNF214 (GeneCards) |
| Number of variants in ZNF214 in this database | 1 (view all the variants) |
| Full name | zinc finger protein 214 |
| Band | 11p15.4 |
| Other IDs | Vega: OTTHUMG00000165618 OMIM: 605015 HGNC: HGNC:13006 Ensembl: ENSG00000149050 |
| Other names | BAZ1, BAZ-1 |
| Summary | This gene is expressed predominantly in the testis and encodes a zinc finger protein that contains an N-terminal kruppel-associated box A (KRABA) domain and twelve zinc finger domains. This gene is located within one of three regions on chromosome 11p15 associated with Beckwith-Wiedemann syndrome, called Beckwith-Wiedemann syndrome chromosome region-2 (BWSCR2), and is thought to play a role in the etiology of this disease. [provided by RefSeq, Aug 2017] |
| Individual ID | 28714951.257 (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; |