Individual #00108497

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country Germany
Population Egyptian
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases argininosuccinic aciduria
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108964 DNA;RNA RT-PCR;SEQ - - ASL 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     
7 Parent #1 +/. - pathogenic g.65547874T>C g.66082887T>C - - ASL_000013 - PubMed: Linnenbank 2002 - - Germline - - - - - Johan den Dunnen ASL - - - - 5 NM_000048.3:c.299T>C - r.299del p.Ile100Thr - - - - - - - - - - - - - -
7 Parent #2 +/. - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 - PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - - - Johan den Dunnen ASL - - - - 6i NM_000048.3:c.446+1G>A - r.349_446del p.del21 - - - - - - - - - - - - - -
Legend   How to query