| Variant ID | 4542 |
|---|---|
| Entrez Gene ID | 316 |
| Gene | AOX1 (GeneCards) |
| Location | hg19 2:201458415-201458415
hg38 2:200593692-200593692 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.201458415 C>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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0.0002 |
|---|---|
| EIGEN score | -0.647 |
| CADD Raw score (version 1.3) | -0.584267 (Deleterious) |
| FATHMM raw prediction score | 0.08708 (Tolerated) |
| Deleterious probability by DeFine | 0.5746 (Deleterious) |
| Entrez Gene ID | 316 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AOX1 (GeneCards) |
| Number of variants in AOX1 in this database | 4 (view all the variants) |
| Full name | aldehyde oxidase 1 |
| Band | 2q33.1 |
| Other IDs | Vega: OTTHUMG00000154536 OMIM: 602841 HGNC: HGNC:553 Ensembl: ENSG00000138356 |
| Other names | AO, AOH1 |
| Summary | Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008] |
| 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; |