Individual #00103079

ID_report -
Reference PubMed: James et al., 2007a
Remarks -
Gender ?
Consanguinity ?
Country Canada
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     

Diagnosis/Initial     

Inheritance     

Diagnosis/Definite     

Protein     

Protein/Multimer_profile     

BleedingScore     

BleedingScore/Tool     

Phenotype details     

Owner     
0000081209 - Unknown - VWF:Ag 32; VWF:RCo 29; FVIII:C 46 ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103532 DNA 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 Unknown +/. EAHAD-CFDB likely pathogenic g.6131172A>G g.6022006A>G - - VWF_000176 - PubMed: James et al., 2007a - - Unknown ? - - 0 - Daniel J Hampshire VWF - - - - - 27 NM_000552.3:c.3568T>C - r.(?) p.(Cys1190Arg) - - - - - - - - - - - - - - - - - - - -
12 Unknown ?/? EAHAD-CFDB VUS g.6234884G>A g.6125718G>A - - VWF_000177 - PubMed: James et al., 2007a - rs151088025 Unknown ? 0.99/0.01 - 0 - Daniel J Hampshire VWF - - - - - _1 NM_000552.3:c.-1298C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
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