Individual #00015849

Reference -
Gender F
Geographic origin Larisa
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 2
Diseases BrCa, CRC, 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     
0000007688 45y - - - - Despoina Kalfakakou

Colorectal cancer (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

FH of CRC     

Other Lynch associated FH     

FH of Polyposis     

Subtype     

Owner     
0000007689 74y - - - - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000007690 74y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004847 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 Parent #2 +?/+? g.41197790C>T [Papamentzelopoulou et al. 2019] BRCA1_000015 rs80357268 - Germline ? - - Yes Despoina Kalfakakou BRCA1 - NM_007294.3:c.5497G>A, NM_007297.3:c.5356G>A, NM_007298.3:c.2185G>A, NM_007299.3:c.*11G>A, NM_007300.3:c.5560G>A r.(?), r.(=) p.(Val1833Met), p.(Val1786Met), p.(Val729Met), p.(=), p.(Val1854Met)
Legend