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Important Variant Information for DPYD

Submitted by: Derek Van Booven and Howard McLeod (CREATE)
Reviewed by: Under Review
Submitted date: May 4th, 2007

There is One Important Variant for DPYD

1. DPYD:67887533 G>A

Gene HGNC Name: DPYD
Variant Summary: Commonly referred to as *2A (McLeod et al 1999)9918128. Variant frequencies are <0.001-0.03 in major global populations. Patients with the variant allele have a significantly greater chance of developing toxicity related to 5-fluorouracil treatment (Van Kuilenberg et al 1999) 10071185.
Key PubMed IDs: 10071185, 9918128
Genomic Variant & GenBank ID: 67887533 G>A on NT_032977
mRNA Variant & GenBank ID: N/A
Protein Variant & GenBank ID: N/A
dbSNP rs#: rs3918290
GoldenPath Position: chr1:97688202 on hg18
Key Drugs/Substrates: 5-fluorouracil
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