| Variant ID | 9126 |
|---|---|
| Entrez Gene ID | 2309 |
| Gene | FOXO3 (GeneCards) |
| Location | hg19 6:108888681-108888681
hg38 6:108567478-108567478 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.108888681 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3106 |
| CADD Raw score (version 1.3) | 0.362111 (Deleterious) |
| FATHMM raw prediction score | 0.187 (Tolerated) |
| Deleterious probability by DeFine | 0.7248 (Deleterious) |
| Entrez Gene ID | 2309 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FOXO3 (GeneCards) |
| Number of variants in FOXO3 in this database | 2 (view all the variants) |
| Full name | forkhead box O3 |
| Band | 6q21 |
| Other IDs | Vega: OTTHUMG00000015327 OMIM: 602681 HGNC: HGNC:3821 Ensembl: ENSG00000118689 |
| Other names | FOXO2, AF6q21, FKHRL1, FOXO3A, FKHRL1P2 |
| Summary | This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.06 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |