Individual #00311598

ID_report IP‐10
Reference PubMed: Ahmed et al., 2019
Remarks -
Gender F
Consanguinity -
Country Pakistan
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases VWD
Owner name Hamideh Yadegari


Phenotypes

von Willebrand disease (VWD) (VWD)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Diagnosis/Definite     

Protein     

Protein/Multimer_profile     

BleedingScore     

BleedingScore/Tool     

Phenotype details     

Owner     
0000236851 VWD Familial, autosomal recessive VWD3 VWF_Ag:<3 , FVIII_C:3.7 - - - - Hamideh Yadegari



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312770 DNA PCR;SEQ Blood - VWF 1 Hamideh Yadegari



Variants

1 entry on 1 page. Showing entry 1.
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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 Both (homozygous) +/. - pathogenic (recessive) g.6167012T>G g.6057846T>G - - VWF_001083 - PubMed: Ahmed et al., 2019 - - Germline - - - 0 - Hamideh Yadegari VWF - - - - - - NM_000552.3:c.1729+3A>C - r.spl p.? - - - - - - - - - - - - - - - - - - - -
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