| Variant ID | 12592 |
|---|---|
| Entrez Gene ID | 64641 |
| Gene | EBF2 (GeneCards) |
| Location | hg19 8:26066366-26066366
hg38 8:26208850-26208850 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.26066366 A>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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6085 |
| CADD Raw score (version 1.3) | -0.503242 (Deleterious) |
| FATHMM raw prediction score | 0.04858 (Tolerated) |
| Deleterious probability by DeFine | 0.0696 (Neutral) |
| Entrez Gene ID | 64641 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EBF2 (GeneCards) |
| Number of variants in EBF2 in this database | 4 (view all the variants) |
| Full name | early B cell factor 2 |
| Band | 8p21.2 |
| Other IDs | Vega: OTTHUMG00000163838 OMIM: 609934 HGNC: HGNC:19090 Ensembl: ENSG00000221818 |
| Other names | COE2, OE-3, EBF-2, O/E-3 |
| Summary | The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety of developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts. [provided by RefSeq, Oct 2011] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |