Overview

Variant ID 12666
Entrez Gene ID 169355
Gene IDO2 (GeneCards)
Location hg19 8:39812843-39812843
hg38 8:39955324-39955324
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000008.10:g.39812843 G>A (Genome Assembly: GRCh37)

Other information

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

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.3679
CADD Raw score (version 1.3) -0.127694 (Deleterious)
FATHMM raw prediction score 0.06149 (Tolerated)
Deleterious probability by DeFine 0.0663 (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 #1

Individual ID 29217584.19 (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

Publication #1: 29217584

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;