Individual #00021841

Reference -
Gender F
Geographic origin Methana
Geographic origin Rodia, Grevena
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     
0000013444 46y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002146 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     
11 Parent #2 ?/? g.67258229_67258230insTGCCCAC - AIP_000030 - - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.788-30_788-29insTGCCCAC r.(=) p.(=)
11 Parent #2 ?/? g.108201108T>G - ATM_000003 rs56399857 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7475T>G r.(?) p.(Leu2492Arg)
15 Parent #2 ?/? g.89848480_89848481insG - FANCI_000014 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3186+7_3186+8insG, NM_018193.2:c.3006+7_3006+8insG r.(=) p.(=)
16 Parent #2 ?/? g.2103372C>T - TSC2_000039 rs45517098 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.255C>T, NM_001077183.1:c.255C>T, NM_001114382.1:c.255C>T r.(=) p.(=)
16 Parent #2 ?/? g.2110650C>G - TSC2_000167 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.976-21C>G, NM_001077183.1:c.976-21C>G, NM_001114382.1:c.976-21C>G r.(=) p.(=)
17 Parent #2 ?/? g.7576925T>C - TP53_000034 - - Germline - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.921A>G, NM_001126112.2:c.921A>G, NM_001126113.2:c.921A>G, NM_001126114.2:c.921A>G, NM_001126115.1:c.525A>G, NM_001126116.1:c.525A>G, NM_001126117.1:c.525A>G, NM_001126118.1:c.804A>G, NM_001276695.1:c.804A>G, NM_001276696.1:c.804A>G, NM_001276697.1:c.444A>G, NM_001276698.1:c.444A>G, NM_001276699.1:c.444A>G, NM_001276760.1:c.804A>G, NM_001276761.1:c.804A>G r.(=) p.(=)
17 Parent #2 -/- g.41244952G>A - BRCA1_000058 rs41286300 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.2596C>T, NM_007297.3:c.2455C>T, NM_007298.3:c.787+1809C>T, NM_007299.3:c.787+1809C>T, NM_007300.3:c.2596C>T r.(?), r.(=) p.(Arg866Cys), p.(Arg819Cys), p.(=)
17 Parent #2 ?/? g.41245667G>C - BRCA1_000006 rs80356838 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1881C>G, NM_007297.3:c.1740C>G, NM_007298.3:c.787+1094C>G, NM_007299.3:c.787+1094C>G, NM_007300.3:c.1881C>G r.(=) p.(=)
Legend