Individual #00021627

Reference -
Gender F
Geographic origin -
Geographic origin -
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     
0000013527 50y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001824 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     
5 Parent #2 ./. g.1286469A>G - chr5_000002 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ?/? g.67256701C>T - AIP_000029 - - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.280-37C>T r.(=) p.(=)
13 Parent #2 -?/-? g.32931912A>C - BRCA2_000200 rs398122587 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7651A>C r.(?) p.(Lys2551Gln)
15 Parent #2 ?/? g.40475938G>A - BUB1B_000059 rs768417752 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.605G>A r.(?) p.(Arg202Gln)
16 Parent #2 -/- g.2106725C>G - TSC2_000043 rs45473698 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.729C>G, NM_001077183.1:c.729C>G, NM_001114382.1:c.729C>G r.(=) p.(=)
16 Parent #2 ?/? g.2124422G>A - TSC2_000284 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2545+32G>A, NM_001077183.1:c.2545+32G>A, NM_001114382.1:c.2545+32G>A r.(=) p.(=)
16 Parent #2 ?/? g.50828088C>T - CYLD_000003 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2461-35C>T, NM_001042412.1:c.2461-35C>T, NM_015247.2:c.2470-35C>T r.(=) p.(=)
X Parent #2 -/- g.132670325_132670328del - GPC3_000001 rs751413609 - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1643-7_1643-4del, NM_001164618.1:c.1526-7_1526-4del, NM_001164619.1:c.1412-7_1412-4del, NM_004484.3:c.1574-7_1574-4del r.spl? p.?
Legend