Individual #00080173

ID_report -
Reference PubMed: Hilbert et al., 2003
Remarks -
Gender M
Consanguinity ?
Country (France)
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases VWD2
Owner name Daniel J Hampshire
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Daniel J Hampshire
Date created 2016-09-02 15:52:28 +02:00 (CEST)
Date last edited N/A


Phenotypes

von Willebrand disease, type 2 (VWD-2) (VWD2)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Diagnosis/Definite     

Disease/Sub-type     

Phenotype details     

Protein     

Protein/Multimer_profile     

BleedingScore     

BleedingScore/Tool     

Owner     
0000059738 - Unknown - type 2N VWF:FVIIIB dramatically decreased VWF_Ag:38, VWF_RCo:25, FVIII_C:3, VWF_CB:-, VWFpp:- lr relative decrease HMW - - Daniel J Hampshire



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080268 DNA PCR;SEQ - - VWF 2 Daniel J Hampshire



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
12 Parent #1 +/. EAHAD-CFDB likely pathogenic g.(6092421_6094210)_(6153618_6155888)del - - - VWF_000151 - PubMed: Hilbert et al., 2003 - - Unknown ? - - - - Daniel J Hampshire VWF - - - - 17i_40i NM_000552.3:c.(2281+1_2282-1)_(6976+1_6977-1)del - r.? p.? - - - - - - - - - - - - - -
12 Parent #2 +/. EAHAD-CFDB likely pathogenic g.6134790A>G g.6025624A>G - - VWF_000050 functional analysis rVWF expression in COS-7 cells PubMed: Hilbert et al., 2003 - - Unknown ? - - - - Daniel J Hampshire VWF - - - - 24 NM_000552.3:c.3178T>C - r.(?) p.(Cys1060Arg) - - - - - - - - - - - - - -
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