Individual #00021714

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin Cephalonia
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     
0000013851 64y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001931 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     
3 Parent #2 ?/? g.10135979C>T - FANCD2_000133 rs555348798 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.3895C>T, NM_033084.3:c.3895C>T r.(?) p.(Arg1299Cys)
9 Parent #2 -/- g.35079502G>A - FANCG_000006 rs35984312 - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.20C>T r.(?) p.(Ser7Phe)
11 Parent #2 ?/? g.47236746G>A - DDB2_000007 - - Germline - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.59G>A r.(?) p.(Arg20Lys)
12 Parent #2 -?/-? g.121416670G>A - HNF1A_000016 rs538619966 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.99G>A r.(=) p.(=)
14 Parent #2 ?/? g.45658158C>T - FANCM_000110 rs186197572 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4933C>T r.(?) p.(Arg1645Cys)
17 Parent #2 ?/? g.29554492T>G - NF1_000088 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2326-49T>G, NM_001042492.2:c.2326-49T>G, NM_001128147.2:c.*5484T>G r.(=) p.(=)
17 Parent #2 ?/? g.29665143C>T - NF1_000277 rs1555534961 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.6742C>T, NM_001042492.2:c.6805C>T r.(?) p.(Arg2248Cys), p.(Arg2269Cys)
Legend