| Variant ID | 23704 |
|---|---|
| Entrez Gene ID | 121549 |
| Gene | ASCL4 (GeneCards) |
| Location | hg19 12:108266421-108266421
hg38 12:107872644-107872644 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000012.11:g.108266421 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3339 |
| CADD Raw score (version 1.3) | -0.130595 (Deleterious) |
| FATHMM raw prediction score | 0.08617 (Tolerated) |
| Deleterious probability by DeFine | 0.1159 (Neutral) |
| Entrez Gene ID | 121549 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ASCL4 (GeneCards) |
| Number of variants in ASCL4 in this database | 5 (view all the variants) |
| Full name | achaete-scute family bHLH transcription factor 4 |
| Band | 12q23.3 |
| Other IDs | Vega: OTTHUMG00000156964 OMIM: 609155 HGNC: HGNC:24311 Ensembl: ENSG00000187855 |
| Other names | HASH4, bHLHa44 |
| Summary | Basic helix-loop-helix transcription factors, such as ASCL4, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008] |
| 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; |