Individual #00021759

Reference -
Gender F
Geographic origin Evinochori, Missolonghi
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     
0000013631 54y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002031 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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.37067120_37067121insTTTTTTA - MLH1_000062 rs535965616 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-8_1039-7insTTTTTTA, NM_001167617.1:c.745-8_745-7insTTTTTTA, NM_001167618.1:c.316-8_316-7insTTTTTTA, NM_001167619.1:c.316-8_316-7insTTTTTTA, NM_001258271.1:c.1039-8_1039-7insTTTTTTA, NM_001258273.1:c.316-8_316-7insTTTTTTA, NM_001258274.1:c.316-8_316-7insTTTTTTA r.(=) p.(=)
7 Parent #2 ?/? g.55249190T>C - EGFR_000052 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2469+19T>C r.(=) p.(=)
12 Parent #2 -/- g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.336G>A r.(=) p.(=)
12 Parent #2 -?/-? g.121437108C>T - HNF1A_000015 rs193922584 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1539C>T r.(=) p.(=)
15 Parent #2 ?/? g.89805020A>G - FANCI_000027 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.446-32A>G, NM_018193.2:c.446-32A>G r.(=) p.(=)
16 Parent #2 -?/-? g.23637756G>C - PALB2_000004 rs180177119 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2587-38C>G r.(=) p.(=)
19 Parent #2 ?/? g.45860604G>A - ERCC2_000045 rs777108823 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1403C>T, NM_001130867.1:c.*1514C>T r.(?), r.(=) p.(Pro468Leu), p.(=)
Legend