| Variant ID | 12893 |
|---|---|
| Entrez Gene ID | 169355 |
| Gene | IDO2 (GeneCards) |
| Location | hg19 8:39813724-39813724
hg38 8:39956205-39956205 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.39813724 C>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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.7309 |
| CADD Raw score (version 1.3) | -0.457019 (Deleterious) |
| FATHMM raw prediction score | 0.04628 (Tolerated) |
| Deleterious probability by DeFine | 0.1549 (Neutral) |
| Entrez Gene ID | 169355 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IDO2 (GeneCards) |
| Number of variants in IDO2 in this database | 5 (view all the variants) |
| Full name | indoleamine 2,3-dioxygenase 2 |
| Band | 8p11.21 |
| Other IDs | Vega: OTTHUMG00000141271 OMIM: 612129 HGNC: HGNC:27269 Ensembl: ENSG00000188676 |
| Other names | INDOL1 |
| Summary | Along with the enzymes encoded by the INDO (MIM 147435) and TDO2 (MIM 191070) genes, the enzyme encoded by the INDOL1 gene metabolizes tryptophan in the kynurenine pathway (Ball et al., 2007 [PubMed 17499941]).[supplied by OMIM, Feb 2011] |
| Individual ID | 29217584.24 (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; |