Individual #00240070

ID_report -
Reference PubMed: Borràs et al., 2017
Remarks Related to individual 00240093
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
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Daniel J Hampshire


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     

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Owner     
0000180232 - Unknown - type 2A - VWF:Ag 18; VWF:RCo 6.4; FVIII:C 30; VWF:CB 15 Relative decrease in HMW (low res);? (unknown; high res) 8 ISTH-BAT Irene Corrales Insa



Screenings


AscendingScreening ID     

Template     

Technique     

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Variants found     

Owner     
0000241174 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)     

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Exon_old     

DNA/Legacy     

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Predict/Grantham     

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Predicted     

Type/DNA     

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CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

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Legacy protein change     

Protein level     
12 Unknown ?/. EAHAD-CFDB unclassified g.6059091G>A g.5949925G>A - - VWF_000895 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa VWF - - - - - 50i NM_000552.3:c.8156-42C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
12 Unknown +?/. EAHAD-CFDB unclassified g.6128463C>T g.6019297C>T - - VWF_000886 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa VWF - - - - - 28 NM_000552.3:c.4121G>A - r.(?) p.(Arg1374His) - - - - - - - - - - - - - - - - - - - -
12 Unknown +?/. EAHAD-CFDB unclassified g.6131958_6131959inv g.6022792_6022793inv - - VWF_000803 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa VWF - - - - - 26 NM_000552.3:c.3485_3486inv - r.(?) p.(Pro1162Leu) - - - - - - - - - - - - - - - - - - - -
12 Unknown -?/. EAHAD-CFDB unclassified g.6132018A>G g.6022852A>G - - VWF_000761 - PubMed: Borràs et al., 2017 - rs535693463 Unknown ? 0.97/0.03 - 0 - Irene Corrales Insa VWF - - - - - 26 NM_000552.3:c.3426T>C - r.(=) p.(Cys1142=) - - - - - - - - - - - - - - - - - - - -
12 Unknown ?/. EAHAD-CFDB unclassified g.6234405G>T g.6125239G>T - - VWF_000865 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa VWF - - - - - _1 NM_000552.3:c.-819C>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
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