| Name | Value |
|---|---|
| CODE | 105938 |
| COMPONENT | DPYD GENE.C.1236G>A |
| CHECK DIGIT | 5 |
| PROPERTY | PRESENCE OR THRESHOLD |
| DATE LAST CHANGED | 2024-08-06 00:00:00 |
| CHANGE TYPE | ADD |
| TIME ASPECT | POINT |
| SYSTEM | BLD/TISS |
| SCALE TYPE | Ordinal |
| METHOD TYPE | MOLGEN |
| CLASS | MOLPATH.MUT |
| FULLY SPECIFIED NAME | DPYD GENE.C.1236G>A:PRTHR:PT:BLD/TISS:ORD:MOLGEN |
| SHORTNAME | DPYD GENE.C.1236G>A BLD/T QL |
| LONG COMMON NAME | DPYD GENE.C.1236G>A [PRESENCE] IN BLOOD OR TISSUE BY MOLECULAR GENETICS METHOD |
| COMMENTS | The c.1236G>A variant of DPYD gene is part of the HapB3 haplotype, which also in cludes other variants such as c.1129-5923C>G. The c.1236G>A variant is consider ed a "tagging single nucleotide polymorphism (SNP)" that can identify the HapB3 haplotype. Patients who are heterozygous or homozygous for HapB3 variant are de ficient in the DPYD enzyme, leading to increased risk toxicity from fluoropyrimi dine chemotherapy drugs. |
| MASTER ENTRY FOR VUID | YES |
| VUID | 5376269 |
| EFFECTIVE DATE/TIME |
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