Individual #00024258

ID_report -
Reference PubMed: Baronciani et al., 2003
Remarks -
Gender F
Consanguinity no
Country Italy
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases VWD-3
Owner name Daniel J Hampshire


Phenotypes

von Willebrand disease, type 3 (VWD-3) (VWD-3)   Add phenotype for this disease

AscendingPhenotype ID     

Inheritance     

Protein     

Phenotype details     

Protein/Multimer_profile     

BleedingScore     

BleedingScore/Tool     

Auto-antibodies     

Owner     
0000020380 Unknown VWF:Ag <1 - ? (unknown; low res);? (unknown; high res) - - No Daniel J Hampshire



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024252 DNA PCR;SEQ;SSCA - - VWF 2 Daniel J Hampshire



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

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 Parent #2 +/+? g.6161876_6161879del g.6052710_6052713del - - VWF_000026 - PubMed: Baronciani et al., 2003 - - Unknown ? - - 0 - Daniel J Hampshire VWF - - - - - 16 NM_000552.3:c.2016_2019del - EAHAD-CFDB: +? r.(?) p.(Ser673Thrfs*67) - - - - - - - - - - - - - - - - - - -
12 Parent #1 +/+? g.6219651C>A g.6110485C>A - - VWF_000025 Functional analysis: rVWF expression in COS-7 cells PubMed: Baronciani et al., 2003; PubMed: Baronciani et al., 2008 - - Unknown ? - - 0 - Daniel J Hampshire VWF - - - - - 5 NM_000552.3:c.421G>T - EAHAD-CFDB: +? r.(?) p.(Asp141Tyr) - - - - - - - - - - - - - - - - - - -
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