Individual #00147078

ID_report -
Reference PubMed: Acquila et al., 2009
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier mother (father not available)
Gender F
Consanguinity no
Country (Italy)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases VWD-3
Owner name Daniel J Hampshire


Phenotypes

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

AscendingPhenotype ID     

Inheritance     

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Auto-antibodies     

Owner     
0000119795 Familial, autosomal recessive VWF:Ag 0; VWF:RCo 0; FVIII:C 2.2 Refer to paper ? (unknown; low res);? (unknown; high res) - - ? Daniel J Hampshire



Screenings


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Variants found     

Owner     
0000147934 DNA MLPA;PCR;SEQ - - VWF 2 Daniel J Hampshire



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Predicted     

Type/DNA     

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Protein level     
12 Paternal (inferred) +/. g.(?_6058180)_(6233587_?)del - - - VWF_000645 - PubMed: Acquila et al., 2009 - - Germline/De novo (untested) ? - - 0 - Daniel J Hampshire VWF - - - - - _1_52_ NM_000552.3:c.(?_-1)_(*1_?)del - EAHAD-CFDB: . r.0 p.0 - - - - - - - - - - - - - - - - - - -
12 Maternal (confirmed) +/. g.6138595_6138597delinsTCA - c.[2878C>T;2880G>A] - VWF_000860 - PubMed: Acquila et al., 2009 - - Germline ? - - 0 - Daniel J Hampshire VWF - - - - - 22 NM_000552.3:c.2878_2880delinsTGA - EAHAD-CFDB: . r.(?) p.(Arg960*) - - - - - - - - - - - - - - - - - - -
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