Individual #00239031

ID_report -
Reference PubMed: Borràs et al., 2017
Remarks -
Gender F
Consanguinity ?
Country Spain
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases VWD-3
Owner name Irene Corrales Insa


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     
0000179301 Unknown VWF:Ag 0; VWF:RCo 5; FVIII:C 12; VWF:CB 0 - ? (unknown; low res);? (unknown; high res) 13 ISTH-BAT ? Irene Corrales Insa



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000240137 DNA PCRm;SEQ-NG-I - - VWF 1 Irene Corrales Insa



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     

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     

Protein level     
12 Both (homozygous) +?/. EAHAD-CFDB unclassified g.6230460G>A g.6121294G>A - - VWF_000003 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa VWF - - - - - 3 NM_000552.3:c.100C>T - r.(?) p.(Arg34*) - - - - - - - - - - - - - - - - - - -
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