| Variant ID | 23242 |
|---|---|
| Entrez Gene ID | 135935 |
| Gene | NOBOX (GeneCards) |
| Location | hg19 7:144102287-144102287
hg38 7:144405194-144405194 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000007.13:g.144102287 C>T (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2945 |
| CADD Raw score (version 1.3) | -0.207378 (Deleterious) |
| FATHMM raw prediction score | 0.13939 (Tolerated) |
| Deleterious probability by DeFine | 0.4065 (Neutral) |
| Entrez Gene ID | 135935 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NOBOX (GeneCards) |
| Number of variants in NOBOX in this database | 2 (view all the variants) |
| Full name | NOBOX oogenesis homeobox |
| Band | 7q35 |
| Other IDs | Vega: OTTHUMG00000158051 OMIM: 610934 HGNC: HGNC:22448 Ensembl: ENSG00000106410 |
| Other names | OG2, OG-2, OG2X, POF5, TCAG_12042 |
| Summary | This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.[provided by RefSeq, May 2011] |
| 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; |