Individual #00004195

ID_report -
Reference -
Remarks 3-generation family, 2 affected sisters, 2 unaffected carrier sisters
Gender ?
Consanguinity ?
Country Italy
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 4
Diseases CJD
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

Creutzfeldt-Jakob disease (CJD) (CJD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000002935 - - - Familial, autosomal dominant - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004123 DNA PCRdig;SEQ - - PRNP 2 Johan den Dunnen



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)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

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     
20 Parent #2 -/? - benign g.4680070_4680093del g.4699424_4699447del - - PRNP_000010 incomplete penetrance {PMID07902693:Pocchiari 1993} - - Germline - - - - - Johan den Dunnen PRNP - - - - 2 NM_000311.3:c.204_227del - r.(?) p.(Pro84_Gln91)del - - - - - - - - - - - - - - - - - - -
20 Parent #1 +/? - pathogenic g.4680494G>A g.4699848G>A - - PRNP_000035 incomplete penetrance {PMID07902693:Pocchiari 1993} - - Germline - - - - - Johan den Dunnen PRNP - - - - 2 NM_000311.3:c.628G>A - r.(?) p.(Val210Ile) - - - - - - - - - - - - - - - - - - -
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