| Variant ID | 16443 |
|---|---|
| Entrez Gene ID | 144455 |
| Gene | E2F7 (GeneCards) |
| Location | hg19 12:77940681-77940681
hg38 12:77546901-77546901 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.77940681 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1253 |
| CADD Raw score (version 1.3) | 0.117776 (Deleterious) |
| FATHMM raw prediction score | 0.10218 (Tolerated) |
| Deleterious probability by DeFine | 0.3617 (Neutral) |
| Entrez Gene ID | 144455 (NCBI Gene) |
|---|---|
| Official Gene Symbol | E2F7 (GeneCards) |
| Number of variants in E2F7 in this database | 12 (view all the variants) |
| Full name | E2F transcription factor 7 |
| Band | 12q21.2 |
| Other IDs | Vega: OTTHUMG00000169969 OMIM: 612046 HGNC: HGNC:23820 Ensembl: ENSG00000165891 |
| Other names | None |
| Summary | E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM, May 2008] |
| Individual ID | 29217584.09 (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; |