Individual #00025488

ID_report -
Reference PubMed: Ajami 2013, Journal: Ajami 2013
Remarks -
Gender F
Consanguinity yes
Country Iran
Population Arab
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PKU
Owner name Naser Ajami
Database submission license No license selected
Created by Naser Ajami


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     
0000022000 mild PKU; pre-treatment Phe level 608 uM - - Unknown - - - - - Naser Ajami



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025491 DNA SEQ Blood - PAH 4 Naser Ajami



Variants

4 entries on 1 page. Showing entries 1 - 4.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

Origin     

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VIP     

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Owner     

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IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

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Protein     

P-domain     

Exon_old     

Function/GVS     

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Predict/PolyPhen     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
12 Unknown -/. - benign g.103237468= g.102843690= L385L - PAH_000014 - PubMed: Ajami 2013, Journal: Ajami 2013 - - Unknown ? - - 0 - Johan den Dunnen PAH - - - - - 11 NM_000277.1:c.1155G>C - r.(=) p.(Leu385=) - - - - - - - - - - - - - - - - - - -
12 Unknown ?/. - VUS g.103237499T>C g.102843721T>C - - PAH_000011 - PubMed: Ajami 2013, Journal: Ajami 2013 - - Unknown ? - - 0 - Naser Ajami PAH - - - - - 11 NM_000277.1:c.1124A>G - r.(?) p.(Gln375Arg) - - - - - - - - - - - - - - - - - - -
12 Parent #1 -?/. - likely benign g.103237750C>G g.102843972C>G IVS10-193G>C - PAH_000013 - PubMed: Ajami 2013, Journal: Ajami 2013 - - Unknown ? - - 0 - Johan den Dunnen PAH - - - - - 10i NM_000277.1:c.1066-193G>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
12 Parent #1 -?/. - likely benign g.103237958_103237959delinsCG g.102844180_102844181delinsCG IVS10+155T>C, IVS10+156T>G - PAH_000012 - PubMed: Ajami 2013, Journal: Ajami 2013 - - Unknown - - - 0 - Johan den Dunnen PAH - - - - - 10i NM_000277.1:c.1065+155_1065+156delinsCG - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
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