Individual #00024253

ID_report -
Reference PubMed: Jorieux et al., 2000
Remarks -
Gender F
Consanguinity ?
Country (France)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases VWD-2
Owner name Daniel J Hampshire
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Daniel J Hampshire


Phenotypes

von Willebrand disease, type 2 (VWD-2) (VWD-2)   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     
0000020375 - Familial, autosomal recessive - type 2N VWF:FVIIIB decreased VWF:Ag 23; VWF:RCo 20; FVIII:C 1.5 Absent HMW (low res);? (unknown; high res) - - Daniel J Hampshire



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024247 DNA PCR;SEQ;SSCA - - VWF 2 Daniel J Hampshire



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
12 Paternal (inferred) +/. EAHAD-CFDB unclassified g.6153536C>T g.6044370C>T - - VWF_000016 Functional analysis: rVWF expression in COS-7 cells PubMed: Jorieux et al., 2000 - - Unknown ? - - 0 - Daniel J Hampshire VWF - - - - - 18 NM_000552.3:c.2363G>A - r.(?) p.(Cys788Tyr) - - - - - - - - - - - - - - - - - - - -
12 Maternal (confirmed) +/. EAHAD-CFDB unclassified g.6220084dup g.6110918dup - - VWF_000015 - PubMed: Jorieux et al., 2000 - - Germline yes - - 0 - Daniel J Hampshire VWF - - - - - 4 NM_000552.3:c.276dup - r.(?) p.(Asp93*) - - - - - - - - - - - - - - - - - - - -
Legend   How to query