Full data view for gene DPYD

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     

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     
+/+ 11 c.1236G>A r.spl? p.(Glu412=) - Parent #1 - pathogenic g.98039419C>T g.97573863C>T Glu412Glu - DPYD_000019 reference haplotype; decreased activity - - rs56038477 Germline - - - 0 - DNA SEQ - - DMB-p - reference haplotype - - - - - - 0 - - 1 Johan den Dunnen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA Parent #1 - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 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 13008 IP3 project, submitted - F no Netherlands white - 0 - - 1 Jesse Swen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA Parent #1 - benign (!)  g.98039419C>T g.97573863C>T - - DPYD_000019 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 25013 IP3 project, submitted - F no Netherlands white - 0 - - 1 Jesse Swen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA Parent #1 - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 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 6002 IP3 project, submitted - M no Netherlands white - 0 - - 1 Jesse Swen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA Parent #1 - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 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 5004 IP3 project, submitted - F no Netherlands white - 0 - - 1 Jesse Swen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA Parent #1 - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 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 3029 IP3 project, submitted - M no Netherlands white - 0 - - 1 Jesse Swen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA Parent #1 - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 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 41005 IP3 project, submitted - F no Netherlands white - 0 - - 1 Jesse Swen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA Parent #1 - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 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 5003 IP3 project, submitted - M no Netherlands white - 0 - - 1 Jesse Swen
+/. 11 c.1236G>A r.(=) p.(Glu412=) - Parent #1 - 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 - - - - - - - - - - - - - - - - - - -
+/. 11 c.1236G>A r.(=) p.(=) - Parent #1 - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 - PubMed: Henricks 2018 - - Germline - 51/1103 patients - 0 - DNA SEQ - - DMB-i patients PubMed: Henricks 2018 - F;M - Netherlands - - 0 - - 51 Johan den Dunnen
-/. - c.1236G>A r.(=) p.(=) - Parent #1 - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 71 Mohammed Faruq
-/. - c.1236G>A r.(=) p.(=) - Both (homozygous) - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
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