Individual #00244449

ID_report -
Reference PubMed: Borràs et al., 2017
Remarks -
Gender M
Consanguinity ?
Country Spain
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases VWD-2
Owner name Irene Corrales Insa


Phenotypes

von Willebrand disease, type 2 (VWD-2) (VWD-2)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Diagnosis/Definite     

Disease/Sub-type     

Phenotype details     

Protein     

Protein/Multimer_profile     

BleedingScore     

BleedingScore/Tool     

Owner     
0000184422 - Unknown - type 2A 2A(sm) VWF:Ag 21; VWF:RCo 7.4; FVIII:C 44; VWF:CB 8.8 ? (unknown; low res);Diffuse satellite bands (high res) 10 ISTH-BAT Irene Corrales Insa



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000245561 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     

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Exon_old     

DNA/Legacy     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

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Legacy protein change     

Protein level     
12 Unknown +?/. EAHAD-CFDB unclassified g.6128641G>A g.6019475G>A - - VWF_000029 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa VWF - - - - - 28 NM_000552.3:c.3943C>T - r.(?) p.(Arg1315Cys) - - - - - - - - - - - - - - - - - - - -
12 Unknown ?/. EAHAD-CFDB unclassified g.6234258G>A g.6125092G>A - - VWF_000939 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa VWF - - - - - _1 NM_000552.3:c.-672C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
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