All variants in the DPYD gene

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

23 entries on 1 page. Showing entries 1 - 23.
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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     
+/+ 14i c.1905+1G>A r.1741_1905del p.Asp581_Asn635del DPYD*2A - pathogenic g.97915614C>T g.97450058C>T IVS14+1G>A - DPYD_000006 reference haplotype DPYD*2A [1905+1G>A;1627A=]; no activity PubMed: McLeod 1998 - rs3918290 Germline - - - 0 - Johan den Dunnen
+/+ 14i c.1905+1G>A r.1741_1905del p.Asp581_Asn635del DPYD*2B - pathogenic g.97915614C>T g.97450058C>T IVS14+1G>A - DPYD_000006 reference haplotype DPYD*2B [1905+1G>A;1627A>G]; no activity PubMed: McLeod 1998 - rs3918290 Germline - - - 0 - Johan den Dunnen
+/. 14i c.1905+1G>A r.spl? p.? DPYD*2A - pathogenic g.97915614C>T g.97450058C>T IVS14 G1A - DPYD_000006 - PubMed: Johnson 2002 - - Unknown yes - - 0 - Johan den Dunnen
+/. 14i c.1905+1G>A r.spl? p.? DPYD*2A - pathogenic g.97915614C>T g.97450058C>T - - DPYD_000006 - PubMed: Johnson 2002 - - Germline yes - - 0 - Johan den Dunnen
+/. 14i c.1905+1G>A r.1741_1905del p.Asp581_Asn635del - - pathogenic g.97915614C>T g.97450058C>T IVS14 G1A - DPYD_000006 - PubMed: Johnson 1999 - - Unknown ? - - 0 - Johan den Dunnen
+/. 14i c.1905+1G>A r.1741_1905del p.Asp581_Asn635del - - pathogenic g.97915614C>T g.97450058C>T - - DPYD_000006 - PubMed: Wei 1996 - - Germline yes - MaeII- 0 - Johan den Dunnen
+/. - c.1905+1G>A r.spl? p.? - - pathogenic g.97915614C>T g.97450058C>T DPYD(NM_000110.3):c.1905+1G>A - DPYD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.1905+1G>A r.spl? p.? - - pathogenic g.97915614C>T g.97450058C>T DPYD(NM_000110.3):c.1905+1G>A - DPYD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 14i c.1905+1G>A r.1741_1905del p.Asp581_Asn635del - - pathogenic (recessive) g.97915614C>T g.97450058C>T - - DPYD_000006 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - 0 - Maja Tarailo-Graovac
+/. 14i c.1905+1G>A r.(1741_1905del) p.(Asp581_Asn635del) DPYD*1/*2A - benign (!) g.97915614C>T g.97450058C>T - - DPYD_000006 intermediate metabolizer (no activity) IP3 project, submitted - - Germline - - - 0 - Jesse Swen
+/. 14i c.1905+1G>A r.(1741_1905del) p.(Asp581_Asn635del) DPYD*1/*2A - benign (!) g.97915614C>T g.97450058C>T - - DPYD_000006 intermediate metabolizer (no activity) IP3 project, submitted - - Germline - - - 0 - Jesse Swen
+/. 14i c.1905+1G>A r.(1741_1905del) p.(Asp581_Asn635del) DPYD*1/*2A - benign (!) g.97915614C>T g.97450058C>T - - DPYD_000006 intermediate metabolizer (no activity) IP3 project, submitted - - Germline - - - 0 - Jesse Swen
+/. 14i c.1905+1G>A r.spl p.? DPYD*2A - benign (!) g.97915614C>T g.97450058C>T - - DPYD_000006 DPD enzyme activity 0.55; for carriers suggested initial fluoropyrimidine drug dose reduction by 0.50 PubMed: Henricks 2018 - rs3918290 SUMMARY record - - - 0 - Johan den Dunnen
+/. 14i c.1905+1G>A r.spl p.? DPYD*2A - benign (!) g.97915614C>T g.97450058C>T - - DPYD_000006 - PubMed: Henricks 2018 - - Germline - 16/1103 patients - 0 - Johan den Dunnen
+/. 14i c.1905+1G>A r.spl p.? - - pathogenic (recessive) g.97915614C>T g.97450058C>T - - DPYD_000006 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1905+1G>A r.spl? p.? - - VUS g.97915614C>T g.97450058C>T DPYD(NM_000110.3):c.1905+1G>A - DPYD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. - c.1905+1G>A r.(1741_1905del) p.(D581_N635del) - - VUS g.97915614C>T g.97450058C>T - - DPYD_000006 - PubMed: Lhota 2016 - rs3918290 Germline - - - 0 - Zdenek Kleibl
./. - c.1905+1G>A r.1741_1905del p.(D581_N635del) - - VUS g.97915614C>T g.97450058C>T - - DPYD_000006 - PubMed: Lhota 2016 - rs3918290 Germline - - - 0 - Zdenek Kleibl
?/. - c.1905+1G>A r.spl? p.? - - VUS g.97915614C>T g.97450058C>T - - DPYD_000006 drug response; 19 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3918290 Germline - 19/2795 individuals - 0 - Mohammed Faruq
+/. - c.1905+1G>A r.spl? p.? - - pathogenic g.97915614C>T - DPYD(NM_000110.3):c.1905+1G>A - DPYD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1905+1G>A r.spl p.? - - pathogenic (recessive) g.97915614C>T g.97450058C>T - - DPYD_000006 - PubMed: Zhu 2015 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1905+1G>A r.spl p.? - ACMG pathogenic (recessive) g.97915614C>T - - - DPYD_000006 - PubMed: Lieber 2013 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1905+1G>A r.spl? p.? - - pathogenic g.97915614C>T - DPYD(NM_000110.3):c.1905+1G>A - DPYD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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