Individual #00037572

ID_report -
Reference PubMed: Eikenboom et al., 1998; PubMed: Castaman et al., 2010b
Remarks Previously reported as T_III3 by Eikenboom et al. (1998).
Gender F
Consanguinity no
Country Italy
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases VWD-1
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 1 (VWD-1) (VWD-1)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Diagnosis/Definite     

Protein     

Protein/Multimer_profile     

BleedingScore     

BleedingScore/Tool     

Phenotype details     

Owner     
0000028092 - Familial, autosomal recessive - VWF_Ag:7, VWF_RCo:<6, FVIII_C:20, VWF_CB:-, VWFpp:- hr diffuse - - - Daniel J Hampshire



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000037665 DNA;RNA PCR;RT-PCR;SEQ - - 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 (confirmed) +/. EAHAD-CFDB pathogenic g.6167213G>T g.6058047G>T - - VWF_000062 functional analysis of RNA from patient platelets PubMed: Eikenboom et al., 1998; PubMed: Castaman et al., 2010b - - Germline yes - - 0 - Daniel J Hampshire VWF - - - - - 13i NM_000552.3:c.1534-3C>A - r.[=, 1534_1729del] p.[=, Leu512Profs*11] - - - - - - - - - - - - - - - - - - - -
12 Maternal (confirmed) +/. EAHAD-CFDB pathogenic g.6220126G>A g.6110960G>A - - VWF_000063 functional analysis of RNA from patient platelets PubMed: Eikenboom et al., 1998; PubMed: Castaman et al., 2010b - - Germline yes - - 0 - Daniel J Hampshire VWF - - - - - 4 NM_000552.3:c.229C>T - r.[=, 229c>u] p.[=, Gln77*] - - - - - - - - - - - - - - - - - - - -
Legend   How to query