Individual #00024228

ID_report -
Reference PubMed: Goodeve et al., 2007
Remarks -
Gender F
Consanguinity ?
Country Netherlands
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases VWD-1
Owner name Daniel J Hampshire


Phenotypes

von Willebrand disease, type 1 (VWD-1) (VWD-1)   Add phenotype for this disease

AscendingPhenotype ID     

Inheritance     

Protein     

Protein/Multimer_profile     

BleedingScore     

BleedingScore/Tool     

Phenotype details     

Owner     
0000020332 Unknown VWF:Ag 30; VWF:RCo 20; FVIII:C 80; VWF:CB 20; VWFpp 56 Normal (low res);Normal satellite bands (high res) 14 MCMDM-1VWD - Daniel J Hampshire



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024220 DNA PCR;SEQ - - VWF 1 Daniel J Hampshire



Variants

1 entry on 1 page. Showing entry 1.
Legend  

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     

Protein level     
12 Paternal (confirmed) +?/. EAHAD-CFDB unclassified g.6232308C>T g.6123142C>T - - VWF_000001 Functional analysis: rVWF expression in COS-7 cells; normal VWF expression when expressed in vitro PubMed: Goodeve et al., 2007; PubMed: Eikenboom et al., 2009 - - Germline ? - - 0 - Daniel J Hampshire VWF - - - - - 2 NM_000552.3:c.55G>A - r.(?) p.(Gly19Arg) - - - - - - - - - - - - - - - - - - -
Legend