All variants in the DPYD gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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     
+?/+? 2 c.85C= r.85c= p.Arg29= DPYD*9A - likely pathogenic g.98348885= - T85C - DPYD_000000 reference haplotype DPYD*9A [85T>C; 2657G=]; note the reference sequence has haplotype DPYD*9A Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: McLeod 1998 - - Germline - - - 0 - Johan den Dunnen
+?/+? 2 c.85C= r.85c= p.Arg29= DPYD*9B - likely pathogenic g.98348885G= - T85C - DPYD_000000 reference haplotype DPYD*9B [85T>C; 2657G>A]; note the reference sequence has haplotype DPYD*9A Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: McLeod 1998 - - Germline - - - 0 - Johan den Dunnen
-?/. 2 c.85C= r.(=) p.Arg29= DPYD*9A - likely benign g.98348885= - T85C - DPYD_000000 normal enzyme activity (PBM cells) Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Johnson 2002 - - Unknown - - - 0 - Johan den Dunnen
+/. 2 c.85C= r.85c= p.Arg29= - - pathogenic g.98348885= - T85C - DPYD_000000 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Vreken 1997 - - Unknown yes - - 0 - Johan den Dunnen
+?/. 2 c.85C= - p.Arg29= - - NA g.98348885= - - - DPYD_000000 expression cloning DPD activity 0.40 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Vreken 1997 - - In vitro (cloned) - - - 0 - Johan den Dunnen
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