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     
?/? 21 c.2657G>A - p.Arg886His DPYD*9B - VUS g.97564154C>T g.97098598C>T G2657A - DPYD_000000 reference haplotype DPYD*9B [85T>C; 2657G>A]; note the reference sequence has haplotype DPYD*9A PubMed: McLeod 1998 - rs1801267 Germline - - - 0 - Johan den Dunnen
+?/. 21 c.2657G>A r.2657g>a p.Arg886His - - likely pathogenic g.97564154C>T g.97098598C>T G2758A (R886H) - DPYD_000000 - PubMed: Vreken 1997 - - Unknown yes - - 0 - Johan den Dunnen
+/. 21 c.2657G>A r.(?) p.Arg886His - - NA g.97564154C>T g.97098598C>T - - DPYD_000000 expression cloning no detecable DPD activity PubMed: Vreken 1997 - - In vitro (cloned) - - - 0 - Johan den Dunnen
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