Full data view for gene DPYD

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

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 14i c.1905+1G>A r.1741_1905del p.Asp581_Asn635del DPYD*2A Parent #1 - 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 - - - - - DNA, RNA RT-PCR, SEQ - - DMBup - - reference haplotype - - - - - - - - 1 Johan den Dunnen
+/+ 14i c.1905+1G>A r.1741_1905del p.Asp581_Asn635del DPYD*2B Parent #1 - 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 - - - - - DNA, RNA RT-PCR, SEQ - - DMBup - - reference haplotype - - - - - - - - 1 Johan den Dunnen
+/. 14i c.1905+1G>A r.spl? p.? DPYD*2A Parent #2 - pathogenic g.97915614C>T g.97450058C>T IVS14 G1A - DPYD_000006 - PubMed: Johnson 2002 - - Unknown yes - - - - DNA SEQ - - DPDD - PubMed: Diasio 1988, PubMed: Johnson 2002 4-generation family, 1 affected, 4 heterozygous carriers with partial DPDD F no United States - - - - - 1 Johan den Dunnen
+/. 14i c.1905+1G>A r.spl? p.? DPYD*2A Maternal (confirmed) - pathogenic g.97915614C>T g.97450058C>T - - DPYD_000006 - PubMed: Johnson 2002 - - Germline yes - - - - DNA SEQ - - DPDD - PubMed: Johnson 2002 son of 11895907-FamPatII5/II6 M no United States - - - - - 1 Johan den Dunnen
+/. 14i c.1905+1G>A r.1741_1905del p.Asp581_Asn635del - Both (homozygous) - pathogenic g.97915614C>T g.97450058C>T IVS14 G1A - DPYD_000006 - PubMed: Johnson 1999 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - DPDD - PubMed: Johnson 1999 - M - United States white >76y - - 5-fluorouracil (5-FU) 1 Johan den Dunnen
+/. 14i c.1905+1G>A r.1741_1905del p.Asp581_Asn635del - Parent #1 - pathogenic g.97915614C>T g.97450058C>T - - DPYD_000006 - PubMed: Wei 1996 - - Germline yes - MaeII- - - DNA, RNA RT-PCR, SEQ - - DPDD - PubMed: Wei 1996 3-generation family, 10 affecteds (4F, 6M) - - United Kingdom (Great Britain) - - - - - 10 Johan den Dunnen
+/. - c.1905+1G>A r.spl? p.? - Unknown - pathogenic g.97915614C>T g.97450058C>T DPYD(NM_000110.3):c.1905+1G>A, DPYD(NM_000110.4):c.1905+1G>A - DPYD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1905+1G>A r.spl? p.? - Unknown - pathogenic g.97915614C>T g.97450058C>T DPYD(NM_000110.3):c.1905+1G>A, DPYD(NM_000110.4):c.1905+1G>A - DPYD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14i c.1905+1G>A r.1741_1905del p.Asp581_Asn635del - Parent #1 - pathogenic (recessive) g.97915614C>T g.97450058C>T - - DPYD_000006 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - - - DNA SEQ-NG-I - - DPDD mother PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 2-generation family, 3 affected, mother/son/daughter M - Netherlands - - - - - 3 Maja Tarailo-Graovac
+/. 14i c.1905+1G>A r.(1741_1905del) p.(Asp581_Asn635del) DPYD*1/*2A Parent #1 - benign (!) g.97915614C>T g.97450058C>T - - DPYD_000006 intermediate metabolizer (no activity) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 3021 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 14i c.1905+1G>A r.(1741_1905del) p.(Asp581_Asn635del) DPYD*1/*2A Parent #1 - benign (!) g.97915614C>T g.97450058C>T - - DPYD_000006 intermediate metabolizer (no activity) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 3014 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 14i c.1905+1G>A r.(1741_1905del) p.(Asp581_Asn635del) DPYD*1/*2A Parent #1 - benign (!) g.97915614C>T g.97450058C>T - - DPYD_000006 intermediate metabolizer (no activity) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6017 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 14i c.1905+1G>A r.spl p.? DPYD*2A Parent #1 - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 14i c.1905+1G>A r.spl p.? DPYD*2A Parent #1 - benign (!) g.97915614C>T g.97450058C>T - - DPYD_000006 - PubMed: Henricks 2018 - - Germline - 16/1103 patients - - - DNA SEQ - - DMBi patients PubMed: Henricks 2018 - F;M - Netherlands - - - - - 16 Johan den Dunnen
+/. 14i c.1905+1G>A r.spl p.? - Maternal (confirmed) - pathogenic (recessive) g.97915614C>T g.97450058C>T - - DPYD_000006 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - - - DNA SEQ - - DPDD daughter PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - F - Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.1905+1G>A r.spl? p.? - Unknown - likely pathogenic g.97915614C>T g.97450058C>T DPYD(NM_000110.3):c.1905+1G>A, DPYD(NM_000110.4):c.1905+1G>A - DPYD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1905+1G>A r.(1741_1905del) p.(D581_N635del) - Unknown - VUS g.97915614C>T g.97450058C>T - - DPYD_000006 - PubMed: Lhota 2016 - rs3918290 Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
./. - c.1905+1G>A r.1741_1905del p.(D581_N635del) - Unknown - VUS g.97915614C>T g.97450058C>T - - DPYD_000006 - PubMed: Lhota 2016 - rs3918290 Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
?/. - c.1905+1G>A r.spl? p.? - Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 19 Mohammed Faruq
+/. - c.1905+1G>A r.spl? p.? - Unknown - pathogenic g.97915614C>T - DPYD(NM_000110.3):c.1905+1G>A, DPYD(NM_000110.4):c.1905+1G>A - DPYD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1905+1G>A r.spl p.? - Both (homozygous) - pathogenic (recessive) g.97915614C>T g.97450058C>T - - DPYD_000006 - PubMed: Zhu 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio66 PubMed: Zhu 2015 - F - Israel - - - - - 1 Johan den Dunnen
+/. - c.1905+1G>A r.spl p.? - Both (homozygous) ACMG pathogenic (recessive) g.97915614C>T - - - DPYD_000006 - PubMed: Lieber 2013 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat1097 PubMed: Lieber 2013 - F - United States - - - - - 1 Johan den Dunnen
+/. - c.1905+1G>A r.spl? p.? - Unknown - pathogenic g.97915614C>T - DPYD(NM_000110.3):c.1905+1G>A, DPYD(NM_000110.4):c.1905+1G>A - DPYD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1905+1G>A r.spl p.? - Both (homozygous) - pathogenic (recessive) g.97915614C>T g.97450058C>T - - DPYD_000006 - PubMed: Reiner 2022 - - Germline - 1/73,755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
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