Individual #00021693

Reference -
Gender F
Geographic origin Halki
Geographic origin Thessalia & Asia Minor
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases OVCA
Owner name Despoina Kalfakakou


Phenotypes

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013267 36y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001903 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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     
6 Parent #2 -?/-? g.35434010C>T - FANCE_000005 rs189384185 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1510-11C>T r.(=) p.(=)
11 Parent #2 ./. g.89011098T>A - chr11_000007 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -?/-? g.108160416T>C - ATM_000208 rs201666889 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.4324T>C r.(?) p.(Tyr1442His)
15 Parent #2 -/- g.91310214A>G - BLM_000043 rs146013879 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2268A>G r.(=) p.(=)
15 Parent #2 ?/? g.91352354T>G - BLM_000084 - - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3752-13T>G r.(=) p.(=)
17 Parent #2 -/- g.41256090_41256106del - BRCA1_000139 - - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.441+33_441+49del, NM_007297.3:c.300+33_300+49del, NM_007298.3:c.441+33_441+49del, NM_007299.3:c.441+33_441+49del, NM_007300.3:c.441+33_441+49del r.(=) p.(=)
19 Parent #2 ?/? g.33792553C>G - CEBPA_000015 - - Germline - - - - Despoina Kalfakakou CEBPA - NM_004364.3:c.768G>C r.(=) p.(=)
Legend