Individual #00104575

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     

Inheritance     

Protein     

Protein/Multimer_profile     

BleedingScore     

BleedingScore/Tool     

Phenotype details     

Owner     
0000082490 Unknown VWF:Ag 28; VWF:RCo 23; FVIII:C 33 ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105047 DNA PCR;SEQ - - VWF 3 Daniel J Hampshire



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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 Parent #1 +/. EAHAD-CFDB VUS g.6127833T>C g.6018667T>C - - VWF_000117 - PubMed: James et al., 2007a - rs1800386 Unknown ? 0.997/0.003 - 0 - Daniel J Hampshire VWF - - - - - 28 NM_000552.3:c.4751A>G - r.(?) p.(Tyr1584Cys) - - - - - - - - - - - - - - - - - - - -
12 Parent #1 +/. EAHAD-CFDB likely pathogenic g.6128892_6128898conNC_000022.11:17179029_17179035 - - - VWF_000186 - PubMed: James et al., 2007a - - Unknown ? - - 0 - Daniel J Hampshire VWF - - - - - 28 NM_000552.3:c.3686_3692con[NG_001212.4:g.6417_6423] - r.(?) p.[(Val1229Gly;Asn1231Thr)] - - - - - - - - - - - - - - - - - - - -
12 Parent #1 -?/. 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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