Individual #00239002

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
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Daniel J Hampshire


Phenotypes

von Willebrand disease, type 3 (VWD-3) (VWD-3)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Diagnosis/Definite     

Protein     

Phenotype details     

Protein/Multimer_profile     

BleedingScore     

BleedingScore/Tool     

Auto-antibodies     

Owner     
0000179288 - Unknown - VWF:Ag 2.9; VWF:RCo 5; FVIII:C 5.8; VWF:CB 2.7 - ? (unknown; low res);? (unknown; high res) 20 ISTH-BAT ? Irene Corrales Insa



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000240108 DNA PCRm;SEQ-NG-I - - VWF 5 Irene Corrales Insa



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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.6103640T>C g.5994474T>C - - VWF_000021 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa VWF - - - - - 36 NM_000552.3:c.6197A>G - r.(?) p.(Asn2066Ser) - - - - - - - - - - - - - - - - - - - -
12 Unknown ?/. EAHAD-CFDB unclassified g.6128438C>A g.6019272C>A - - VWF_000020 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa VWF - - - - - 28 NM_000552.3:c.4146G>T - r.(=) p.(Leu1382=) - - - - - - - - - - - - - - - - - - - -
12 Unknown +?/. EAHAD-CFDB unclassified g.6132857A>G g.6023691A>G - - VWF_000868 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa VWF - - - - - 25 NM_000552.3:c.3319T>C - r.(?) p.(Tyr1107His) - - - - - - - - - - - - - - - - - - - -
12 Unknown ?/. EAHAD-CFDB unclassified g.6143978C>T g.6034812C>T - - VWF_000054 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa VWF - - - - - 20 NM_000552.3:c.2561G>A - r.(?) p.(Arg854Gln) - - - - - - - - - - - - - - - - - - - -
12 Unknown +?/. EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa VWF - - - - - 5 NM_000552.3:c.375_376delinsC - r.(?) p.(Tyr126Thrfs*49) - - - - - - - - - - - - - - - - - - - -
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