Individual #00060226

ID_report -
Reference PubMed: Häberle 2003, PubMed: Häberle 2003
Remarks -
Gender ?
Consanguinity -
Country -
Population -
Age at death 00y00m06d (6 days)
VIP -
Data_av -
Treatment -
Panel size 1
Diseases NAGSD
Owner name Johannes Häberle
Database submission license No license selected
Created by Johannes Häberle
Date created 2016-03-11 16:10:19 +01:00 (CET)
Date last edited 2023-02-23 09:56:23 +01:00 (CET)


Phenotypes

deficiency, N-acetylglutamate synthase (NAGSD) (NAGSD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000046716 hyperammonemic encephalopathy - - Unknown - - 00y00m03d - - Johannes Häberle



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000060213 DNA SEQ - - NAGS 2 Johannes Häberle



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     
17 Parent #1 +/. - pathogenic (recessive) g.42083895A>T g.44006527A>T - - NAGS_000011 - PubMed: Häberle 2003, PubMed: Häberle 2003 - - Germline - - - - - Johannes Häberle NAGS - - - - - NM_153006.2:c.916-2A>T - r.spl p.? - - - - - - - - - - - - - -
17 Parent #2 +/. - pathogenic (recessive) g.42084997dup g.44007629dup - - NAGS_000041 - PubMed: Häberle 2003, PubMed: Häberle 2003 - - Germline - - - - - Johannes Häberle NAGS - - - - 6 NM_153006.2:c.1307dup - r.(?) p.(Thr439Hisfs*52) - - - - - - - - - - - - - -
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