Individual #00420017

ID_report HPA-38
Reference -
Remarks -
Gender M
Consanguinity no
Country China
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases PKU
Owner name Xiaomei Luo
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Xiaomei Luo
Date created 2022-10-30 13:56:46 +01:00 (CET)
Date last edited 2022-11-01 18:42:10 +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     
0000311303 mild PKU, phe at diagnosis=27.7mg/dl - - Unknown - - - - - Xiaomei Luo



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000421324 DNA SEQ-NG blood - PAH 1 Xiaomei Luo



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     

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 Maternal (confirmed) +/. ACMG pathogenic (recessive) g.103234270C>T - - - PAH_000005 - - - - Germline ? - - - - Xiaomei Luo PAH - - - - 12 NM_000277.1:c.1223G>A - r.(?) p.(Arg408Gln) - - - - - - - - - - - - - -
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