Individual #00021099

Reference -
Gender F
Geographic origin Messenia
Geographic origin Arcadia
Population Greek
Consanguinity no
Remarks -
Panel size 3
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     
0000013987 74y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000130 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.14197917G>A - XPC_000001 rs1398304875 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.1840C>T, NM_004628.4:c.1951C>T r.(?) p.(Arg614Trp), p.(Arg651Trp)
3 Parent #2 -?/-? g.52436459T>G - BAP1_000012 rs144083199 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.2057-22A>C r.(=) p.(=)
3 Parent #2 ?/? g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.123-48T>G r.(=) p.(=)
7 Parent #2 -?/-? g.6026708C>A - PMS2_000001 rs63750668 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1688G>T r.(?) p.(Arg563Leu)
9 Parent #2 ./. g.110888438G>A - chr9_000006 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ?/? g.108164131A>G - ATM_000034 rs368830730 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.4703A>G r.(?) p.(His1568Arg)
15 Parent #2 ?/? g.40475948G>A - BUB1B_000001 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.615G>A r.(=) p.(=)
16 Parent #2 ?/? g.3633409G>C - SLX4_000012 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.4842C>G r.(?) p.(Ser1614Arg)
16 Parent #2 -?/-? g.23634273A>G - PALB2_000009 rs180177128 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2996+17T>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.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.181T>G, NM_007297.3:c.40T>G, NM_007298.3:c.181T>G, NM_007299.3:c.181T>G, NM_007300.3:c.181T>G r.(?) p.(Cys61Gly), p.(Cys14Gly)
Legend