All variants in the DPYD gene

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

12 entries on 1 page. Showing entries 1 - 12.
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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     
+/+ 11 c.1236G>A r.spl? p.(Glu412=) - - pathogenic g.98039419C>T g.97573863C>T Glu412Glu - DPYD_000019 reference haplotype; decreased activity - - rs56038477 Germline - - - 0 - Johan den Dunnen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - Jesse Swen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA - benign (!)  g.98039419C>T g.97573863C>T - - DPYD_000019 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - Jesse Swen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - Jesse Swen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - Jesse Swen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - Jesse Swen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - Jesse Swen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - Jesse Swen
+/. 11 c.1236G>A r.(=) p.(Glu412=) - - benign (!) g.98039419C>T g.97573863C>T E412E - DPYD_000019 DPD enzyme activity 0.80 (large variation); for carriers suggested initial fluoropyrimidine drug dose reduction by 0.5050%, followed by close monitoring and individual dose titration PubMed: Henricks 2018 - rs56038477 SUMMARY record - - - 0 - Johan den Dunnen
+/. 11 c.1236G>A r.(=) p.(=) - - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 - PubMed: Henricks 2018 - - Germline - 51/1103 patients - 0 - Johan den Dunnen
-/. - c.1236G>A r.(=) p.(=) - - benign g.98039419C>T g.97573863C>T - - DPYD_000019 71 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56038477 Germline - 71/2795 individuals - 0 - Mohammed Faruq
-/. - c.1236G>A r.(=) p.(=) - - benign g.98039419C>T g.97573863C>T - - DPYD_000019 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56038477 Germline - 3/2795 individuals - 0 - Mohammed Faruq
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