Individual #00356076

ID_report -
Reference PubMed: Dorling 2021, Journal: Dorling 2021
Remarks analysis 53461 controls (BRIDGES)
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av bcac.ccge.medschl.cam.ac.uk/contact
Treatment -
Panel size 4
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


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000357306 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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
2 Parent #1 ?/. - NA g.47600659A>T - chr2_47600659_A_T - EPCAM_000121 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 - 4/53461 controls - 0 - BRIDGES consortium EPCAM - - - - - - NM_002354.2:c.134A>T - r.(?) p.(Gln45Leu) - - - - - - - - - - - - - - - - - - - -
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