| Variant ID | 1930 |
|---|---|
| Entrez Gene ID | 1806 |
| Gene | DPYD (GeneCards) |
| Location | hg19 1:98294402-98294402
hg38 1:97828846-97828846 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.98294402 T>C (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) | 0.00003239 |
|---|---|
| EIGEN score | 0.0461 |
| CADD Raw score (version 1.3) | 0.113194 (Deleterious) |
| FATHMM raw prediction score | 0.16888 (Tolerated) |
| Deleterious probability by DeFine | 0.2532 (Neutral) |
| 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 | 29217584.08 (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; |