Individual #00021675

Reference -
Gender F
Geographic origin Corfu
Geographic origin Asia Minor & Euboea
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     
0000013461 47y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001880 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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     
1 Parent #2 ?/? g.193107338T>C - CDC73_000006 - - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.512+35T>C r.(=) p.(=)
2 Parent #2 -/- g.29449927G>A - ALK_000004 rs75895956 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2928C>T r.(=) p.(=)
2 Parent #2 -?/-? g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
10 Parent #2 -?/-? g.88681353G>A - BMPR1A_000006 rs140592056 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1243G>A r.(?) p.(Glu415Lys)
16 Parent #2 ?/? g.50821790T>C - CYLD_000004 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2099+27T>C, NM_001042412.1:c.2099+27T>C, NM_015247.2:c.2108+27T>C r.(=) p.(=)
16 Parent #2 -?/-? g.89815038G>A - FANCA_000026 rs1800348 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
17 Parent #2 ./. g.47436714T>C - chr17_000029 - - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 -?/-? g.59853755C>T - BRIP1_000022 rs4988352 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2097+7G>A r.(=) p.(=)
Legend