| Variant ID | 5065 |
|---|---|
| Entrez Gene ID | 9941 |
| Gene | EXOG (GeneCards) |
| Location | hg19 3:38582243-38582243
hg38 3:38540752-38540752 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.38582243 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4468 |
| CADD Raw score (version 1.3) | -0.080467 (Deleterious) |
| FATHMM raw prediction score | 0.0676 (Tolerated) |
| Deleterious probability by DeFine | 0.2545 (Neutral) |
| Entrez Gene ID | 9941 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EXOG (GeneCards) |
| Number of variants in EXOG in this database | 2 (view all the variants) |
| Full name | exo/endonuclease G |
| Band | 3p22.2 |
| Other IDs | Vega: OTTHUMG00000131295 OMIM: 604051 HGNC: HGNC:3347 Ensembl: ENSG00000157036 |
| Other names | ENGL, ENGLA, ENGLB, ENGL-a, ENGL-b, ENDOGL1, ENDOGL2 |
| Summary | This gene encodes an endo/exonuclease with 5'-3' exonuclease activity. The encoded enzyme catalyzes the hydrolysis of ester linkages at the 5' end of a nucleic acid chain. This enzyme is localized to the mitochondria and may play a role in programmed cell death. Alternatively spliced transcript variants have been described. A pseudogene exists on chromosome 18. [provided by RefSeq, Feb 2009] |
| 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; |