Individual #00014830

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin Aridaia, Pella
Population Greek
Consanguinity no
Remarks -
Panel size 6
Diseases BrCa, ENC, 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     
0000010135 28y - - - - Despoina Kalfakakou

Endometrial cancer, familial (ENC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000010136 38y - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000010137 31y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002201 DNA MLPA 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 Parent #2 +/+ g.41193676_41198104delinsCTGTG [Pertesi et al. 2011],[Konstantopoulou et al. 2013], [Armaou et al 2009] BRCA1_000102 - - Germline ? BRCA1 exon 24 deletion Euxinus Pontus Yes Despoina Kalfakakou BRCA1 - NM_007294.3:c.5468-285_*4019delinsCACAG, NM_007297.3:c.5327-285_*4019delinsCACAG, NM_007298.3:c.2156-285_*4019delinsCACAG, NM_007299.3:c.2082-285_*4125delinsCACAG, NM_007300.3:c.5531-285_*4019delinsCACAG r.0? p.0?
Legend