Individual #00016088

Reference -
Gender F
Geographic origin Rhodes
Geographic origin Symi
Population Greek
Consanguinity no
Remarks -
Panel size 5
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     
0000008008 50y - - - - Despoina Kalfakakou

Pancreatic cancer (PANCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000008009 67y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005912 DNA SEQ-NG-I 1 - 2 Despoina Kalfakakou



Variants

2 entries on 1 page. Showing entries 1 - 2.
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 Parent #2 ?/? g.32929044C>A - BRCA2_000263 rs776714935 - Germline ? - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7054C>A r.(?) p.(Pro2352Thr)
22 Parent #2 ?/? g.29130553A>T - CHEK2_000084 rs371657037 - Germline ? - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.157T>A, NM_001257387.1:c.-621T>A, NM_007194.3:c.157T>A, NM_145862.2:c.157T>A r.(=), r.(?) p.(=), p.(Ser53Thr)
Legend