Individual #00201862

ID_report -
Reference PubMed: Ziada-Bouchaar 2016
Remarks -
Gender F
Consanguinity -
Country Algeria
Population Algerian
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CRC
Owner name Ziada-Bouchaar Hadia
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
Date created 2018-03-26 20:46:07 +02:00 (CEST)
Date last edited N/A


Phenotypes

cancer, colorectal, susceptibility to (CRC) (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Cysts     

Eye/Retina     

Neoplasm     

Owner     
0000149431 - Unknown - - - 29y - right colon (caecum, ascending and transverse colon) - - - - - - Ziada-Bouchaar Hadia



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000202893 DNA ? - - - 1 Ziada-Bouchaar Hadia



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     
2 Unknown +/. - pathogenic g.(?_48010221)_(48010633_48018065)del - 1-?_ 260 +?del - MSH6_000174 - PubMed: Ziada-Bouchaar 2016 - - Germline - - - - - Ziada-Bouchaar Hadia MSH6 - - - - - NM_000179.2:c.(?_-152)_ (260+1_261-1)del - r.? p.? - - - - - - - - - - - - - -
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