Individual #00003036

ID_report -
Reference PubMed: Sterl 2013
Remarks -
Gender -
Consanguinity -
Country Austria
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PKU
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

phenylketonuria (PKU) (PKU)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000001882 classic PKU - - Isolated (sporadic) - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002944 DNA PCR;SEQ - - PAH 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     
12 Parent #2 +/? - pathogenic g.103234271G>A g.102840493G>A - - PAH_000010 missense variant, catalytic domain, PAH-activity 2% PubMed: Sterl 2013 - - Unknown yes - - 0 - Johan den Dunnen PAH - - - - 12 NM_000277.1:c.1222C>T - r.(?) p.(Arg408Trp) - - - - - - - - - - - - - - - - - - -
12 Parent #1 +/? - pathogenic g.103271239C>T g.102877461C>T - - PAH_000009 - PubMed: Sterl 2013 - - Unknown yes - - 0 - Johan den Dunnen PAH - - - - 4i NM_000277.1:c.441+1G>A - r.spl? p.? - - - - - - - - - - - - - - - - - - -
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