Individual #00024249

ID_report -
Reference PubMed: Li et al., 1998; PubMed: Wang et al., 2000a
Remarks -
Gender ?
Consanguinity ?
Country China
Population -
Age at 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     
0000020371 Familial, autosomal recessive - - ? (unknown; low res);? (unknown; high res) - - ? Daniel J Hampshire



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024243 DNA DGGE;PCR;SEQ - - VWF 1 Daniel J Hampshire



Variants

1 entry on 1 page. Showing entry 1.
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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     

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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 Both (homozygous) +/. EAHAD-CFDB unclassified g.6230348G>T g.6121182G>T - - VWF_000008 - PubMed: Li et al., 1998; PubMed: Wang et al., 2000a - - Germline yes - - 0 - Daniel J Hampshire VWF - - - - - 3 NM_000552.3:c.212C>A - r.(?) p.(Ser71*) - - - - - - - - - - - - - - - - - - - -
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