| Variant ID | 14854 |
|---|---|
| Entrez Gene ID | 1592 |
| Gene | CYP26A1 (GeneCards) |
| Location | hg19 10:94939490-94939490
hg38 10:93179733-93179733 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.94939490 G>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0685 |
| CADD Raw score (version 1.3) | -0.199322 (Deleterious) |
| FATHMM raw prediction score | 0.16635 (Tolerated) |
| Deleterious probability by DeFine | 0.677 (Deleterious) |
| Entrez Gene ID | 1592 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CYP26A1 (GeneCards) |
| Number of variants in CYP26A1 in this database | 7 (view all the variants) |
| Full name | cytochrome P450 family 26 subfamily A member 1 |
| Band | 10q23.33 |
| Other IDs | Vega: OTTHUMG00000018765 OMIM: 602239 HGNC: HGNC:2603 Ensembl: ENSG00000095596 |
| Other names | CP26, CYP26, P450RAI, P450RAI1 |
| Summary | This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.22 (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; |