| Variant ID | 21087 |
|---|---|
| Entrez Gene ID | 1549 |
| Gene | CYP2A7 (GeneCards) |
| Location | hg19 19:41394445-41394445
hg38 19:40888540-40888540 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000019.9:g.41394445 T>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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1225 |
| CADD Raw score (version 1.3) | 0.491211 (Deleterious) |
| FATHMM raw prediction score | 0.12531 (Tolerated) |
| Deleterious probability by DeFine | 0.1684 (Neutral) |
| Entrez Gene ID | 1549 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CYP2A7 (GeneCards) |
| Number of variants in CYP2A7 in this database | 1 (view all the variants) |
| Full name | cytochrome P450 family 2 subfamily A member 7 |
| Band | 19q13.2 |
| Other IDs | Vega: OTTHUMG00000182715 OMIM: 608054 HGNC: HGNC:2611 Ensembl: ENSG00000198077 |
| Other names | CPA7, CPAD, CYP2A, CYPIIA7, P450-IIA4 |
| 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; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (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; |