Individual #00034055

ID_report -
Reference PubMed: Baronciani et al., 2007
Remarks -
Gender M
Consanguinity no
Country (Italy)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases VWD-2
Owner name Daniel J Hampshire
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     

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Owner     
0000027450 - Familial, autosomal recessive - type 2A - VWF:Ag 7; VWF:RCo 2; FVIII:C 32; VWF:CB <1 Absent (low res);? (unknown; high res) 17 MCMDM-1VWD Daniel J Hampshire



Screenings


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Variants found     

Owner     
0000034124 DNA PCR;SEQ - - VWF 2 Daniel J Hampshire



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)     

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Exon_old     

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Predicted     

Type/DNA     

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Legacy protein change     

Protein level     
12 Paternal (confirmed) +/+? EAHAD-CFDB likely pathogenic g.6128574G>A g.6019408G>A - - VWF_000042 Functional analysis: rVWF expression in COS-7 cells PubMed: Baronciani et al., 2007 - - Germline yes - - 0 - Daniel J Hampshire VWF - - - - - 28 NM_000552.3:c.4010C>T - r.(?) p.(Pro1337Leu) - - - - - - - - - - - - - - - - - - - -
12 Maternal (confirmed) +/+? EAHAD-CFDB likely pathogenic g.6184552A>G g.6075386A>G - - VWF_000041 Functional analysis: rVWF expression in COS-7 cells PubMed: Baronciani et al., 2007 - - Germline yes - - 0 - Daniel J Hampshire VWF - - - - - 7 NM_000552.3:c.823T>C - r.(?) p.(Cys275Arg) - - - - - - - - - - - - - - - - - - - -
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