Individual #00014716

Reference -
Gender F
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 5
Diseases BrCa, OVCA
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000007841 40y - - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000007842 53y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001049 DNA SEQ 1 BRCA1 1 Despoina Kalfakakou



Variants

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
17 Maternal (inferred) +/+ g.41199660C>T [Konstantopoulou et al. 2013], [Armaou et al 2009] BRCA1_000056 rs80357212 - Germline - - - Yes Despoina Kalfakakou BRCA1 - NM_007294.3:c.5467G>A, NM_007297.3:c.5326G>A, NM_007298.3:c.2155G>A, NM_007299.3:c.2081G>A, NM_007300.3:c.5530G>A r.(?) p.(Ala1823Thr), p.(Ala1776Thr), p.(Ala719Thr), p.(Cys694Tyr), p.(Ala1844Thr)
Legend