Individual #00004211

ID_report -
Reference -
Remarks -
Gender ?
Consanguinity ?
Country - (not applicable)
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases Healthy/Control
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

Healthy individual / control (Healthy/Control)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000002951 - - - Unknown - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004139 DNA SEQ - - PRNP 11 Johan den Dunnen



Variants

11 entries on 1 page. Showing entries 1 - 11.
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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 #1 ?/? - VUS g.4680156G>A g.4699510G>A - - PRNP_000016 - - - rs56362942 Unknown - - - - - Johan den Dunnen PRNP - - - - 2 NM_000311.3:c.290G>A - r.(?) p.(Ser97Asn) - - - - - - - - - - - - - - - - - - -
20 Parent #1 ?/? - VUS g.4680180C>T g.4699534C>T - - PRNP_000018 - - - rs11538758 Unknown - - - - - Johan den Dunnen PRNP - - - - 2 NM_000311.3:c.314C>T - r.(?) p.(Pro105Leu) - - - - - - - - - - - - - - - - - - -
20 Parent #1 ?/? - VUS g.4680251A>G g.4699605A>G - - PRNP_000023 - - - rs1799990 Unknown - - - - - Johan den Dunnen PRNP - - - - 2 NM_000311.3:c.385A>G - r.(?) p.(Met129Val) - - - - - - - - - - - - - - - - - - -
20 Parent #1 ?/? - VUS g.4680290G>A g.4699644G>A - - PRNP_000024 - - - rs150351644 Unknown - - - - - Johan den Dunnen PRNP - - - - 2 NM_000311.3:c.424G>A - r.(?) p.(Gly142Ser) - - - - - - - - - - - - - - - - - - -
20 Parent #1 ?/? - VUS g.4680378A>G g.4699732A>G - - PRNP_000025 - - - rs16990018 Unknown - - - - - Johan den Dunnen PRNP - - - - 2 NM_000311.3:c.512A>G - r.(?) p.(Asn171Ser) - - - - - - - - - - - - - - - - - - -
20 Parent #1 ?/? - VUS g.4680458T>G g.4699812T>G - - PRNP_000029 - - - rs55871421 Unknown - - - - - Johan den Dunnen PRNP - - - - 2 NM_000311.3:c.592T>G - r.(?) p.(Phe198Val) - - - - - - - - - - - - - - - - - - -
20 Parent #1 ?/? - VUS g.4680464G>A g.4699818G>A - - PRNP_000031 - - - rs28933385 Unknown - - - - - Johan den Dunnen PRNP - - - - 2 NM_000311.3:c.598G>A - r.(?) p.(Glu200Lys) - - - - - - - - - - - - - - - - - - -
20 Parent #1 ?/? - VUS g.4680488C>T g.4699842C>T - - PRNP_000033 - - - rs55826236 Unknown - - - - - Johan den Dunnen PRNP - - - - 2 NM_000311.3:c.622C>T - r.(?) p.(Arg208Cys) - - - - - - - - - - - - - - - - - - -
20 Parent #1 ?/? - VUS g.4680489G>A g.4699843G>A - - PRNP_000034 - - - rs74315412 Unknown - - - - - Johan den Dunnen PRNP - - - - 2 NM_000311.3:c.623G>A - r.(?) p.(Arg208His) - - - - - - - - - - - - - - - - - - -
20 Parent #1 ?/? - VUS g.4680494G>A g.4699848G>A - - PRNP_000035 - - - rs74315407 Unknown - - - - - Johan den Dunnen PRNP - - - - 2 NM_000311.3:c.628G>A - r.(?) p.(Val210Ile) - - - - - - - - - - - - - - - - - - -
20 Parent #1 ?/? - VUS g.4680521G>A g.4699875G>A - - PRNP_000038 - - - rs1800014 Unknown - - - - - Johan den Dunnen PRNP - - - - 2 NM_000311.3:c.655G>A - r.(?) p.(Glu219Lys) - - - - - - - - - - - - - - - - - - -
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