Individual #00015455

Reference -
Gender M
Geographic origin Charavgi, Messinia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 4
Diseases BrCa, PANCA
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     
0000007134 70y - - - - Despoina Kalfakakou

Pancreatic cancer (PANCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000007135 75y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004709 DNA SEQ 1 BRCA1, BRCA2 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     
13 Maternal (inferred) +/+ g.32910831C>G - BRCA2_000044 rs587781471 - Germline ? - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.2339C>G r.(?) p.(Ser780*)
Legend