| Variant ID | 14265 |
|---|---|
| Entrez Gene ID | 1558 |
| Gene | CYP2C8 (GeneCards) |
| Location | hg19 10:96893996-96893996
hg38 10:95134239-95134239 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.96893996 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2683 |
| CADD Raw score (version 1.3) | -0.341125 (Deleterious) |
| FATHMM raw prediction score | 0.16394 (Tolerated) |
| Deleterious probability by DeFine | 0.1229 (Neutral) |
| Entrez Gene ID | 1558 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CYP2C8 (GeneCards) |
| Number of variants in CYP2C8 in this database | 2 (view all the variants) |
| Full name | cytochrome P450 family 2 subfamily C member 8 |
| Band | 10q23.33 |
| Other IDs | Vega: OTTHUMG00000018804 OMIM: 601129 HGNC: HGNC:2622 Ensembl: ENSG00000138115 |
| Other names | CPC8, CYPIIC8, CYP2C8DM, MP-12/MP-20 |
| 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 protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] |
| Individual ID | 29217584.10 (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; |