All variants in the DPYD gene

Information The variants shown are described using the NM_000110.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 14 c.1898del r.1898del p.Pro633Glnfs*5 DPYD*3 - pathogenic g.97915623del g.97450067del delC1897 - DPYD_000008 reference haplotype DPYD*3 [1898del] PubMed: McLeod 1998 - rs72549303 Germline - <0.008 - 0 - Johan den Dunnen
+/. 14 c.1898del r.1898del p.Pro633Glnfs*5 - - pathogenic g.97915623del g.97450067del delC1897 - DPYD_000008 other deleterious variant on maternal allele expected but not identified PubMed: Vreken 1997 - - Germline ? - - 0 - Johan den Dunnen
+/. 14 c.1898del r.1898del p.Pro633Glnfs*5 - - pathogenic g.97915623del g.97450067del delC1897 - DPYD_000008 reduced RNA stability (NMD) PubMed: Vreken 1997 - - Unknown ? - - 0 - Johan den Dunnen
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