Individual #00225102

ID_report ?
Reference Journal: Laitman 2019
Remarks case
Gender F
Consanguinity -
Country Kuwait
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases BROVCA
Owner name Eitan Friedman
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-01-03 12:06:04 +01:00 (CET)
Date last edited 2019-06-26 11:54:01 +02:00 (CEST)


Phenotypes

cancer, breast-ovarian, familial, susceptibility to (BROVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000170219 - BROVCA - Unknown - - - - - Eitan Friedman



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226181 DNA SEQ - - BRCA1 1 Eitan Friedman



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     
17 Unknown +/. - pathogenic (dominant) g.41267746C>A g.43115729C>A C44F - BRCA1_000036 - Journal: Laitman 2019 - rs80357446 Germline - - - - - Eitan Friedman BRCA1 - - - - - NM_007294.3:c.131G>T - r.(?) p.(Cys44Phe) - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.