All variants in the DPYD gene

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

13 entries on 1 page. Showing entries 1 - 13.
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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     
?/. 22 c.2846A>T r.(?) p.(Asp949Val) - - VUS g.97547947T>A g.97082391T>A - - DPYD_000004 - - - rs67376798 Germline - - - 0 - Gerard C.P. Schaafsma
+/+ 22 c.2846A>T r.(?) p.(Asp949Val) - - pathogenic g.97547947T>A g.97082391T>A - - DPYD_000004 reference haplotype; decreased activity - - rs67376798 Germline - - - 0 - Johan den Dunnen
+/. 22 c.2846A>T r.(2846a>u) p.(Asp949Val) DPYD 2846AT - benign (!) g.97547947T>A g.97082391T>A - - DPYD_000004 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - Jesse Swen
+/. 22 c.2846A>T r.(2846a>u) p.(Asp949Val) DPYD 2846AT - benign (!) g.97547947T>A g.97082391T>A - - DPYD_000004 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - Jesse Swen
+/. 22 c.2846A>T r.(2846a>u) p.(Asp949Val) DPYD 2846AT - benign (!) g.97547947T>A g.97082391T>A - - DPYD_000004 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - Jesse Swen
+/. 22 c.2846A>T r.(2846a>u) p.(Asp949Val) DPYD 2846AT - benign (!) g.97547947T>A g.97082391T>A - - DPYD_000004 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - Jesse Swen
+/. 22 c.2846A>T r.(?) p.(Asp949Val) - - benign (!) g.97547947T>A g.97082391T>A - - DPYD_000004 DPD enzyme activity 0.65; for carriers suggested initial fluoropyrimidine drug dose reduction by 0.50 PubMed: Henricks 2018 - rs67376798 SUMMARY record - - - 0 - Johan den Dunnen
+/. 22 c.2846A>T r.(?) p.(Asp949Val) - - benign (!) g.97547947T>A g.97082391T>A - - DPYD_000004 - PubMed: Henricks 2018 - - Germline - 17/1103 patients - 0 - Johan den Dunnen
+?/. - c.2846A>T r.(?) p.(Asp949Val) - - likely pathogenic g.97547947T>A g.97082391T>A DPYD(NM_000110.3):c.2846A>T (p.D949V) - DPYD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2846A>T r.(?) p.(Asp949Val) - - VUS g.97547947T>A g.97082391T>A DPYD(NM_000110.3):c.2846A>T (p.D949V) - DPYD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.2846A>T r.(?) p.(Asp949Val) - - pathogenic g.97547947T>A g.97082391T>A DPYD(NM_000110.3):c.2846A>T (p.D949V) - DPYD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2846A>T r.(?) p.(Asp949Val) - - VUS g.97547947T>A g.97082391T>A DPYD(NM_000110.3):c.2846A>T (p.D949V) - DPYD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2846A>T r.(?) p.(Asp949Val) - - VUS g.97547947T>A g.97082391T>A - - DPYD_000004 drug response; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs67376798 Germline - 2/2789 individuals - 0 - Mohammed Faruq
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