Full data view for gene DPYD

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

13 entries on 1 page. Showing entries 1 - 13.
Legend   How to query  

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     
?/. 22 c.2846A>T r.(?) p.(Asp949Val) - Unknown - VUS g.97547947T>A g.97082391T>A - - DPYD_000004 - - - rs67376798 Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 22 c.2846A>T r.(?) p.(Asp949Val) - Parent #1 - pathogenic g.97547947T>A g.97082391T>A - - DPYD_000004 reference haplotype; decreased activity - - rs67376798 Germline - - - 0 - DNA SEQ - - DMB-p - reference haplotype - - - - - - 0 - - 1 Johan den Dunnen
+/. 22 c.2846A>T r.(2846a>u) p.(Asp949Val) DPYD 2846AT Parent #1 - benign (!) g.97547947T>A g.97082391T>A - - DPYD_000004 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 25005 IP3 project, submitted - M no Netherlands white - 0 - - 1 Jesse Swen
+/. 22 c.2846A>T r.(2846a>u) p.(Asp949Val) DPYD 2846AT Parent #1 - benign (!) g.97547947T>A g.97082391T>A - - DPYD_000004 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 5006 IP3 project, submitted - M no Netherlands white - 0 - - 1 Jesse Swen
+/. 22 c.2846A>T r.(2846a>u) p.(Asp949Val) DPYD 2846AT Parent #1 - benign (!) g.97547947T>A g.97082391T>A - - DPYD_000004 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 11004 IP3 project, submitted - F no Netherlands white - 0 - - 1 Jesse Swen
+/. 22 c.2846A>T r.(2846a>u) p.(Asp949Val) DPYD 2846AT Parent #1 - benign (!) g.97547947T>A g.97082391T>A - - DPYD_000004 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6019 IP3 project, submitted - F no Netherlands white - 0 - - 1 Jesse Swen
+/. 22 c.2846A>T r.(?) p.(Asp949Val) - Parent #1 - 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 - - - - - - - - - - - - - - - - - - -
+/. 22 c.2846A>T r.(?) p.(Asp949Val) - Parent #1 - benign (!) g.97547947T>A g.97082391T>A - - DPYD_000004 - PubMed: Henricks 2018 - - Germline - 17/1103 patients - 0 - DNA SEQ - - DMB-i patients PubMed: Henricks 2018 - F;M - Netherlands - - 0 - - 17 Johan den Dunnen
+?/. - c.2846A>T r.(?) p.(Asp949Val) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2846A>T r.(?) p.(Asp949Val) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2846A>T r.(?) p.(Asp949Val) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2846A>T r.(?) p.(Asp949Val) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2846A>T r.(?) p.(Asp949Val) - Parent #1 - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
Legend   How to query