Individual #00021640

Reference -
Gender F
Geographic origin ─░stanbul
Geographic origin Nafplion
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     
0000013884 66y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001836 DNA SEQ-NG-I 1 - 4 Despoina Kalfakakou



Variants

4 entries on 1 page. Showing entries 1 - 4.
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     
2 Parent #2 ?/? g.215635792C>A - BARD1_000003 - - Germline - - - - Despoina Kalfakakou BARD1 - NM_000465.2:c.1315-1756G>T r.(=) p.(=)
4 Parent #2 ./. g.1734287T>A - chr4_000008 - - - - - - - Despoina Kalfakakou - - - -
14 Parent #2 ?/? g.45658083_45658085del - FANCM_000051 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4858_4860del r.(?) p.(Glu1622del)
17 Parent #2 ?/? g.59821930C>A - BRIP1_000070 rs200313471 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2120G>T r.(?) p.(Arg707Leu)
Legend