| Variant ID | 24020 |
|---|---|
| Entrez Gene ID | 55769 |
| Gene | ZNF83 (GeneCards) |
| Location | hg19 19:53197962-53197962
hg38 19:52694709-52694709 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000019.9:g.53197962 G>A (Genome Assembly: GRCh37) |
| 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 |
|---|---|
| EIGEN score | 0.0436 |
| CADD Raw score (version 1.3) | 1.160377 (Deleterious) |
| FATHMM raw prediction score | 0.34973 (Tolerated) |
| Deleterious probability by DeFine | 0.1025 (Neutral) |
| Entrez Gene ID | 55769 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNF83 (GeneCards) |
| Number of variants in ZNF83 in this database | 3 (view all the variants) |
| Full name | zinc finger protein 83 |
| Band | 19q13.41 |
| Other IDs | Vega: OTTHUMG00000182761 OMIM: 194558 HGNC: HGNC:13158 Ensembl: ENSG00000167766 |
| Other names | HPF1, ZNF816B |
| Summary | None |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |