Individual #00017586

ID_report -
Reference PubMed: Diasio 1988, PubMed: Johnson 2002
Remarks 4-generation family, 1 affected, 4 heterozygous carriers with partial DPDD
Gender F
Consanguinity no
Country United States
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases DPDD
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

dihydropyrimidine dehydrogenase deficiency (DPDD) (DPDD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

Enzyme/Activity     

Protein     

Owner     
0000015947 - - - Familial - - - - undetectable (leukocytes) - Johan den Dunnen



Screenings


AscendingScreening ID     

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Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017569 DNA SEQ - - DPYD 3 Johan den Dunnen



Variants

3 entries on 1 page. Showing entries 1 - 3.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

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Exon_old     

DNA/Legacy     

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Predict/Grantham     

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Predicted     

Type/DNA     

Conservation     

CpG     

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mRNA level     

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Legacy protein change     

Protein level     
1 Parent #2 +/. - pathogenic g.97915614C>T g.97450058C>T IVS14 G1A - DPYD_000006 - PubMed: Johnson 2002 - - Unknown yes - - 0 - Johan den Dunnen DPYD - - - - - 14i NM_000110.3:c.1905+1G>A DPYD*2A r.spl? p.? - - - - - - - - - - - - - - - - - - - -
1 Parent #1 +/. - pathogenic g.97981343A>C g.97515787A>C - - DPYD_000016 - PubMed: Johnson 2002 - - Germline yes - - 0 - Johan den Dunnen DPYD - - - - - 13 NM_000110.3:c.1679T>G DPYD*13 r.(?) p.(Ile560Ser) - - - - - - - - - - - - - - - - - - - -
1 Parent #2 -/- - benign g.97981395T= - - - DPYD_000000 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Johnson 2002 - - Unknown yes - - 0 - Johan den Dunnen DPYD - - - - - 13 NM_000110.3:c.1627A= DPYD*2A r.(=) p.(Ile543=) - - - - - - - - - - - - - - - - - - - -
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