Individual #00183896

ID_report 30204945-cases
Reference PubMed: Burke 2018, Journal: Burke 2018
Remarks analysis 6475 cases
Gender -
Consanguinity -
Country Belgium
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases cancer, breast
Owner name Lez J Burke
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     
0000184863 DNA SEQ - promoter/5'UTR BRCA1 1 Lez J Burke



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/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     
17 Unknown ?/. - VUS g.41277861A>G g.43125844A>G - - BRCA1_005314 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - - - Lez J Burke BRCA1 - - - - _1 NM_007294.3:c.-593T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
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