Individual #00016194

Reference -
Gender F
Geographic origin Lofoi, Florina
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
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     
0000008158 42y - - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000008159 49y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004965 DNA SEQ 0 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.41209080dupG [Konstantopoulou et al. 2007], [Konstantopoulou et al. 2013], [Armaou et al 2009] BRCA1_000050 rs80357906 - Germline ? - Thrace, Macedonia, Thessalia Yes Despoina Kalfakakou BRCA1 - NM_007294.3:c.5266dupC, NM_007297.3:c.5125dupC, NM_007298.3:c.1954dupC, NM_007299.3:c.1954dupC, NM_007300.3:c.5329dupC r.(?) p.(Gln1756Profs*74), p.(Gln1709Profs*74), p.(Gln652Profs*74), p.(Gln652Profs*54), p.(Gln1777Profs*74)
Legend