Individual #00311667

ID_report -
Reference PubMed: Yadegari 2012
Remarks -
Gender -
Consanguinity -
Country Germany
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases VWD
Owner name Johan den Dunnen


Phenotypes

von Willebrand disease (VWD) (VWD)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Diagnosis/Definite     

Protein     

Protein/Multimer_profile     

BleedingScore     

BleedingScore/Tool     

Phenotype details     

Owner     
0000236920 VWD Familial, autosomal recessive VWD2A VWF_Ag:13, Rco:7, FVIII_C:22 - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312839 DNA SEQ - - VWF 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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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     

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 Unknown +?/. - likely pathogenic g.6092416A>C g.5983250A>C - - VWF_001058 - PubMed: Yadegari 2012 - - Germline - - - 0 - Johan den Dunnen VWF - - - - - - NM_000552.3:c.6981T>G - r.(?) p.(Cys2327Trp) - - - - - - - - - - - - - - - - - - - -
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