Individual #00101372

ID_report -
Reference PubMed: Jamuar et al 2017
Remarks father of 00101374
Gender M
Consanguinity -
Country Saudi Arabia
Population Arabic
Age at death -
VIP -
Data_av -
Treatment -
Panel size 3
Diseases Healthy/Control
Owner name Ashley Marsh
Database submission license No license selected
Created by Ashley Marsh
Date created 2017-03-24 12:15:47 +01:00 (CET)
Date last edited 2017-04-04 06:03:38 +02:00 (CEST)


Phenotypes

Healthy individual / control (Healthy/Control)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000079575 - - - Unknown - - - - - Ashley Marsh



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101820 DNA SEQ Blood - DCC 1 Ashley Marsh



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     
18 Unknown +/. - pathogenic g.50450167_50450173del g.52923797_52923803del - - DCC_000029 {CV:430581} PubMed: Jamuar et al 2017 - - Germline yes - - - - Ashley Marsh DCC - - - - 4 NM_005215.3:c.788_794del - r.(?) p.(Val263Alafs*36) IgC2-3 - - - - - - - - - - - - -
Legend   How to query  


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