Individual #00338536

ID_report -
Reference PubMed: Dorling 2021, Journal: Dorling 2021
Remarks analysis 53461 controls (BRIDGES)
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av bcac.ccge.medschl.cam.ac.uk/contact
Treatment -
Panel size 1
Diseases Healthy/Control
Owner name BRIDGES consortium
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-03-11 11:28:20 +01:00 (CET)
Date last edited N/A


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000339766 DNA SEQ-NG - 34-gene panel EPCAM 1 BRIDGES consortium



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 Parent #1 ?/. - NA g.47600671C>G - chr2_47600671_C_G - EPCAM_000125 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium EPCAM - - - - - NM_002354.2:c.146C>G - r.(?) p.(Thr49Ser) - - - - - - - - - - - - - -
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