Individual #00235370

ID_report -
Reference PubMed: Borràs et al., 2017
Remarks -
Gender F
Consanguinity ?
Country Spain
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases VWD1
Owner name Irene Corrales Insa
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Daniel J Hampshire
Date created 2019-05-24 10:45:00 +02:00 (CEST)
Date last edited N/A


Phenotypes

von Willebrand disease, type 1 (VWD-1) (VWD1)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Diagnosis/Definite     

Protein     

Protein/Multimer_profile     

BleedingScore     

BleedingScore/Tool     

Phenotype details     

Owner     
0000175631 - Unknown - VWF:Ag 186; VWF:RCo 140; FVIII:C 88; VWF:CB 130 ? (unknown; low res);? (unknown; high res) 11 ISTH-BAT Historical VWD1 diagnosis Irene Corrales Insa



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000236473 DNA PCRm;SEQ-NG-I - - VWF 3 Irene Corrales Insa



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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
12 Unknown ?/. EAHAD-CFDB VUS g.6076854C>T g.5967688C>T - - VWF_000861 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa VWF - - - - 46i NM_000552.3:c.7771-86G>A - r.(=) p.(=) - - - - - - - - - - - - - -
12 Unknown ?/. EAHAD-CFDB VUS g.6132054G>A g.6022888G>A - - VWF_000762 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa VWF - - - - 26 NM_000552.3:c.3390C>T - r.(=) p.(Cys1130=) - - - - - - - - - - - - - -
12 Unknown ?/. EAHAD-CFDB VUS g.6140659C>T g.6031493C>T - - VWF_000128 - PubMed: Borràs et al., 2017 - rs33978901 Unknown ? 0.99/0.01 - - - Irene Corrales Insa VWF - - - - 21 NM_000552.3:c.2771G>A - r.(?) p.(Arg924Gln) - - - - - - - - - - - - - -
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