Individual #00047107

ID_report -
Reference PubMed: Riccardi et al., 2009
Remarks Related to individuals 00047106, 00047108 and 00047109.
Gender M
Consanguinity ?
Country (Italy)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HEMA
Owner name Geoffrey Kemball-Cook


Phenotypes

hemophilia A (HEMA) (HEMA)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Diagnosis/Definite     

Disease/Sub-type     

Phenotype details     

FVIII:Ag (%)     

FVIII:C (%; presumed 1-stage)     

FVIII:C (%; 2-stage/chromogenic)     

Assay ratio     

Auto-antibodies     

Owner     
0000034469 - Unknown - - disease severity mild - 29 - - ? Geoffrey Kemball-Cook



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000047206 DNA DHPLC;PCR;SEQ - - F8 1 Geoffrey Kemball-Cook



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     
X Unknown +/. EAHAD-CFDB likely pathogenic g.154251084A>C g.155022809A>C - - F8_000051 - PubMed: Riccardi et al., 2009 - - Unknown ? - - 0 - Geoffrey Kemball-Cook F8 - - - - - - NM_000132.3:c.-257T>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
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