Individual #00021605

Reference -
Gender F
Geographic origin Kalamata
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     
0000013883 66y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001794 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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.232952396G>C - DIS3L2_000089 rs755258805 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.566G>C, NM_001257282.1:c.566G>C, NM_152383.4:c.566G>C r.(?) p.(Gly189Ala)
3 Parent #2 -?/-? g.10106533G>A - FANCD2_000125 rs372215382 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2142G>A, NM_033084.3:c.2142G>A r.(=) p.(=)
13 Parent #2 ?/? g.103514630T>A - ERCC5_000007 rs764744058 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.1131T>A r.(=) p.(=)
16 Parent #2 -?/-? g.2112558G>A - TSC2_000093 rs45484298 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1318G>A, NM_001077183.1:c.1318G>A, NM_001114382.1:c.1318G>A r.(?) p.(Gly440Ser)
16 Parent #2 ?/? g.3640664C>T - SLX4_000017 rs139287784 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2975G>A r.(?) p.(Gly992Glu)
16 Parent #2 ?/? g.3646330C>G - SLX4_000139 rs750768695 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1748G>C r.(?) p.(Arg583Thr)
17 Parent #2 -?/-? g.41245799T>C - BRCA1_000130 rs876659580 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1749A>G, NM_007297.3:c.1608A>G, NM_007298.3:c.787+962A>G, NM_007299.3:c.787+962A>G, NM_007300.3:c.1749A>G r.(=) p.(=)
17 Parent #2 ?/? g.59924512C>T - BRIP1_000004 rs4988346 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.577G>A r.(?) p.(Val193Ile)
21 Parent #2 -/- g.36259125T>C - RUNX1_000006 rs199881885 - Germline - - - - Despoina Kalfakakou RUNX1 - NM_001001890.2:c.270+15A>G, NM_001122607.1:c.270+15A>G, NM_001754.4:c.351+15A>G r.(=) p.(=)
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