| Variant ID | 2851 |
|---|---|
| Entrez Gene ID | 1806 |
| Gene | DPYD (GeneCards) |
| Location | hg19 1:97842533-97842533
hg38 1:97376977-97376977 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.97842533 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1373 |
| CADD Raw score (version 1.3) | 0.044986 (Deleterious) |
| FATHMM raw prediction score | 0.0419 (Tolerated) |
| Deleterious probability by DeFine | 0.5557 (Deleterious) |
| Entrez Gene ID | 1806 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DPYD (GeneCards) |
| Number of variants in DPYD in this database | 6 (view all the variants) |
| Full name | dihydropyrimidine dehydrogenase |
| Band | 1p21.3 |
| Other IDs | Vega: OTTHUMG00000039683 OMIM: 612779 HGNC: HGNC:3012 Ensembl: ENSG00000188641 |
| Other names | DHP, DPD, DHPDHASE |
| Summary | The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] |
| 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; |