Individual #00234347

ID_report -
Reference PubMed: Borràs et al., 2017
Remarks Related to individuals 00234346 and 00234349
Gender F
Consanguinity ?
Country Spain
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases VWD-1
Owner name Irene Corrales Insa


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     
0000174766 - Unknown - VWF:Ag 23; VWF:RCo 19; FVIII:C 56; VWF:CB 20 ? (unknown; low res);? (unknown; high res) 13 ISTH-BAT - Irene Corrales Insa



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000235449 DNA PCRm;SEQ-NG-I - - VWF 2 Irene Corrales Insa



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 unclassified g.6103589C>T g.5994423C>T - - VWF_000833 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa VWF - - - - - 36 NM_000552.3:c.6248G>A - r.(?) p.(Gly2083Asp) - - - - - - - - - - - - - - - - - - - -
12 Unknown ?/. EAHAD-CFDB unclassified g.6232239T>C g.6123073T>C - - VWF_000834 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa VWF - - - - - 2i NM_000552.3:c.55+69A>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
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