Individual #00425717

ID_report -
Reference PubMed: Eiken 1996, PubMed: Eiken 1996
Remarks -
Gender -
Consanguinity -
Country Norway
Population -
Age at death -
VIP -
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
Date created 2022-11-25 15:03:45 +01:00 (CET)
Date last edited 2022-11-25 15:50:09 +01:00 (CET)


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     
0000316892 Phe 914 umol/l in brest-fed neonate phenylketonuria (newborn screening) PKU Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000427037 DNA DGGE;SEQ;SSCA - - 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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
12 Parent #2 +/. - pathogenic (recessive) g.103234270C>T g.102840492C>T R408Q - PAH_000005 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - Johan den Dunnen PAH - - - - - NM_000277.1:c.1223G>A - r.(?) p.(Arg408Gln) - - - - - - - - - - - - - -
12 Parent #1 +/. - pathogenic (recessive) g.103234271G>A g.102840493G>A R408W - PAH_000010 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - Johan den Dunnen PAH - - - - - NM_000277.1:c.1222C>T - r.(?) p.(Arg408Trp) - - - - - - - - - - - - - -
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