Individual #00016410

Reference -
Gender F
Geographic origin Alexandria, Egypt
Geographic origin Kranidi
Population Greek
Consanguinity no
Remarks -
Panel size 5
Diseases BladCa, 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     
0000008472 47y - - Strong - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000008473 67y - - Yes - Despoina Kalfakakou

Bladder Cancer (BladCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000008474 70y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005031 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.41189422_41200474del [Apostolou et al. 2017],[Konstantopoulou et al. 2013], [Armaou et al 2009] BRCA1_000090 - - Germline ? BRCA1 exons 23-24 deletion Minor Asia and Aegean Islands Yes Despoina Kalfakakou BRCA1 - NM_007294.3:c.5407-754_*8273del, NM_007297.3:c.5265+664_*8273del, NM_007298.3:c.2094+664_*8273del, NM_007299.3:c.2021-754_*8379del, NM_007300.3:c.5469+664_*8273del r.0?, r.? p.0?, p.?
Legend