| Variant ID | 21987 |
|---|---|
| Entrez Gene ID | 1564 |
| Gene | CYP2D7 (GeneCards) |
| Location | hg19 22:42540837-42540837
hg38 22:42144836-42144836 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000022.10:g.42540837 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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3007 |
| CADD Raw score (version 1.3) | 0.115002 (Deleterious) |
| FATHMM raw prediction score | 0.09536 (Tolerated) |
| Deleterious probability by DeFine | 0.772 (Deleterious) |
| Entrez Gene ID | 1564 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CYP2D7 (GeneCards) |
| Number of variants in CYP2D7 in this database | 2 (view all the variants) |
| Full name | cytochrome P450 family 2 subfamily D member 7 (gene/pseudogene) |
| Band | 22q13.2 |
| Other IDs | Vega: OTTHUMG00000030222 HGNC: HGNC:2624 Ensembl: ENSG00000205702 |
| Other names | CYP2D, CYP2D6, CYP2D@, CYP2D7P, P450C2D, P450DB1, CYP2D7AP, CYP2D7P1, RNA40057 |
| Summary | This gene is a member of the cytochrome P450 gene superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is a segregating pseudogene, where some individuals may have an allele that encodes a functional enzyme, while other individuals have an allele encoding a protein that is predicted to be non-functional. In this case, the functional allele is thought to be rare. This locus is part of a cluster of cytochrome P450 genes on chromosome 22. [provided by RefSeq, Jan 2017] |
| 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; |