Individual #00024254

ID_report -
Reference PubMed: Kakela et al., 2006
Remarks -
Gender ?
Consanguinity ?
Country (United States)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases VWD-3
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 3 (VWD-3) (VWD-3)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Diagnosis/Definite     

Protein     

Phenotype details     

Protein/Multimer_profile     

BleedingScore     

BleedingScore/Tool     

Auto-antibodies     

Owner     
0000020376 - Unknown - VWF_Ag:-, VWF_RCo:-, FVIII_C:-, VWF_CB:-, VWFpp:- - ? - - ? Daniel J Hampshire



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024248 DNA DHPLC;PCR;SEQ - - VWF 2 Daniel J Hampshire



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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 Paternal (confirmed) +?/. EAHAD-CFDB VUS g.6219539_6219553dup g.6110373_6110387dup - - VWF_000018 - PubMed: Kakela et al., 2006 - - Germline ? - - 0 - Daniel J Hampshire VWF - - - - - 5_5i NM_000552.3:c.521_532+3dup - r.(spl?) p.? - - - - - - - - - - - - - - - - - - - -
12 Paternal (confirmed) +?/. EAHAD-CFDB VUS g.6219689_6219702del g.6110523_6110536del - - VWF_000017 - PubMed: Kakela et al., 2006 - - Germline ? - - 0 - Daniel J Hampshire VWF - - - - - 5 NM_000552.3:c.374_387del - r.(?) p.(Gly125Valfs*3) - - - - - - - - - - - - - - - - - - - -
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