| Variant ID | 14908 |
|---|---|
| Entrez Gene ID | 1959 |
| Gene | EGR2 (GeneCards) |
| Location | hg19 10:64629275-64629275
hg38 10:62869515-62869515 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.64629275 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1153 |
| CADD Raw score (version 1.3) | -0.064135 (Deleterious) |
| FATHMM raw prediction score | 0.12416 (Tolerated) |
| Deleterious probability by DeFine | 0.614 (Deleterious) |
| Entrez Gene ID | 1959 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EGR2 (GeneCards) |
| Number of variants in EGR2 in this database | 5 (view all the variants) |
| Full name | early growth response 2 |
| Band | 10q21.3 |
| Other IDs | Vega: OTTHUMG00000018308 OMIM: 129010 HGNC: HGNC:3239 Ensembl: ENSG00000122877 |
| Other names | AT591, CMT1D, CMT4E, KROX20 |
| Summary | The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |