Individual #00051688

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country China
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 4
Diseases DMBp
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2013-03-10 14:38:37 +01:00 (CET)
Date last edited N/A


Phenotypes

metabolism, drug, poor (DMBp)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000038281 poor metaboliser, warfarin - - Unknown - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000051636 DNA SEQ - - CYP2C9 6 Johan den Dunnen



Variants

6 entries on 1 page. Showing entries 1 - 6.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA 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     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
10 Parent #1 ?/. - VUS g.96696529T>C g.94936772T>C -1912T>C - CYP2C9_001007 - PubMed: Zhao 2004 - - Unknown - 4/59 cases - - - Johan den Dunnen CYP2C9 - - - - _1 NM_000771.3:c.-1911T>C - r.(=) p.(=) - - - - - - - - - - - - - -
10 Parent #1 ?/. - VUS g.96696555C>G g.94936798C>G -1886C>G - CYP2C9_001008 - PubMed: Zhao 2004 - - Unknown - 4/59 cases - - - Johan den Dunnen CYP2C9 - - - - _1 NM_000771.3:c.-1885C>G - r.(=) p.(=) - - - - - - - - - - - - - -
10 Parent #1 ?/. - VUS g.96696903G>A g.94937146G>A -1538G>A - CYP2C9_001009 - PubMed: Zhao 2004 - - Unknown - 4/59 cases - - - Johan den Dunnen CYP2C9 - - - - _1 NM_000771.3:c.-1537G>A - r.(=) p.(=) - - - - - - - - - - - - - -
10 Parent #1 ?/. - VUS g.96697459G>A g.94937702G>A -982G>A - CYP2C9_001010 - PubMed: Zhao 2004 - - Unknown - 4/59 cases - - - Johan den Dunnen CYP2C9 - - - - _1 NM_000771.3:c.-981G>A - r.(=) p.(=) - - - - - - - - - - - - - -
10 Parent #1 +/. - pathogenic g.96741053A>C g.94981296A>C - - CYP2C9_000003 - PubMed: Zhao 2004 - rs1057910 Unknown - 4/59 cases - - - Johan den Dunnen CYP2C9 - - - - 7 NM_000771.3:c.1075A>C CYP2C9*3 r.(?) p.(Ile359Leu) - - - - - - - - - - - - - -
10 Parent #1 ?/. - VUS g.96748737A>T g.94988980A>T G475G - CYP2C9_001012 - PubMed: Zhao 2004 - - Unknown - 4/59 cases - - - Johan den Dunnen CYP2C9 - - - - 9 NM_000771.3:c.1425A>T - r.(?) p.(=) - - - - - - - - - - - - - -
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