Individual #00021692

Reference -
Gender F
Geographic origin Halkidiki
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     
0000013885 66y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001902 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.29416692C>A - ALK_000103 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.4261G>T r.(?) p.(Val1421Phe)
5 Parent #2 -?/-? g.112179153C>G - APC_000015 rs72541816 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.7862C>G, NM_001127510.2:c.7862C>G, NM_001127511.2:c.7808C>G r.(?) p.(Ser2621Cys), p.(Ser2603Cys)
7 Parent #2 ?/? g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
7 Parent #2 ?/? g.66453508A>T - SBDS_000010 - - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-22T>A r.(=) p.(=)
7 Parent #2 ?/? g.66453515C>A - SBDS_000009 - - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-29G>T r.(=) p.(=)
8 Parent #2 ?/? g.30942668A>G - WRN_000107 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1351-14A>G r.(=) p.(=)
9 Parent #2 ?/? g.35074428G>A - FANCG_000038 - - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1700C>T r.(?) p.(Ala567Val)
10 Parent #2 ?/? g.88678886A>G - BMPR1A_000010 - - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.869-43A>G r.(=) p.(=)
11 Parent #2 ./. g.89011098T>A - chr11_000007 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
13 Parent #2 -/- g.32893207T>A - BRCA2_000028 rs81002830 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.68-7T>A r.(=) p.(=)
17 Parent #2 ?/? g.41245333T>C - BRCA1_000141 rs56329598 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.2215A>G, NM_007297.3:c.2074A>G, NM_007298.3:c.787+1428A>G, NM_007299.3:c.787+1428A>G, NM_007300.3:c.2215A>G r.(?), r.(=) p.(Lys739Glu), p.(Lys692Glu), p.(=)
19 Parent #2 ?/? g.45873748_45873749insC - ERCC2_000003 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.5+45_5+46insG, NM_001130867.1:c.-326_-325insG r.(=) p.(=)
22 Parent #2 ./. g.33229841A>G - chr22_000005 - - - - - - - Despoina Kalfakakou - - - -
Legend