Individual #00021088

Reference -
Gender F
Geographic origin Sparti
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     
0000013420 46y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000089 DNA SEQ-NG-I 1 - 19 Despoina Kalfakakou



Variants

19 entries on 1 page. Showing entries 1 - 19.
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.29917926G>A - ALK_000002 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.788-46C>T r.(=) p.(=)
2 Parent #2 -?/-? g.48033829C>G - MSH6_000004 rs201482798 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.4001+39C>G, NM_001281492.1:c.3611+39C>G, NM_001281493.1:c.3095+39C>G, NM_001281494.1:c.3095+39C>G r.(=) p.(=)
2 Parent #2 -/- g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.702+10T>G, NM_001257282.1:c.712T>G, NM_152383.4:c.702+10T>G r.(=), r.(?) p.(=), p.(Tyr238Asp)
3 Parent #2 ./. g.189401777G>C - chr3_000003 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.55238941G>A - EGFR_000004 rs17290246 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
7 Parent #2 -?/-? g.116422030C>G - MET_000001 rs186524917 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.3523-12C>G, NM_001127500.1:c.3577-12C>G r.(=) p.(=)
8 Parent #2 ?/? g.145741199A>G - RECQL4_000027 rs754788578 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1207T>C - p.?
9 Parent #2 ?/? g.98221957G>C - PTCH1_000011 rs778810550 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2812C>G, NM_001083602.1:c.2614C>G, NM_001083603.1:c.2809C>G, NM_001083604.1:c.2359C>G, NM_001083605.1:c.2359C>G, NM_001083606.1:c.2359C>G, NM_001083607.1:c.2359C>G r.(?) p.(Gln938Glu), p.(Gln872Glu), p.(Gln937Glu), p.(Gln787Glu)
11 Parent #2 ?/? g.32417962A>G - WT1_000001 - - Germline - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.1048-9T>C, NM_001198551.1:c.463-9T>C, NM_001198552.1:c.412-9T>C, NM_024424.3:c.1099-9T>C, NM_024426.4:c.1099-9T>C r.(=) p.(=)
13 Parent #2 -/- g.32907407A>G - BRCA2_000034 rs28897710 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1792A>G r.(?) p.(Thr598Ala)
13 Parent #2 -/- g.32912560G>A - BRCA2_000025 rs28897724 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4068G>A r.(=) p.(=)
13 Parent #2 +/+ g.32950929G>A - BRCA2_000012 rs397508006 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.8754+1G>A r.spl? p.?
14 Parent #2 ?/? g.95574125C>G - DICER1_000003 - - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.2651-27G>C, NM_001271282.1:c.2651-27G>C, NM_030621.3:c.2651-27G>C, NM_177438.2:c.2651-27G>C r.(=) p.(=)
15 Parent #2 -?/-? g.91354493C>T - BLM_000006 rs756451802 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3933C>T r.(=) p.(=)
16 Parent #2 -?/-? g.3656645A>G - SLX4_000008 rs147826749 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.590T>C r.(?) p.(Val197Ala)
17 Parent #2 ?/? g.29508691A>C - NF1_000023 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.655-37A>C, NM_001042492.2:c.655-37A>C, NM_001128147.2:c.655-37A>C r.(=) p.(=)
17 Parent #2 ?/? g.29527410_29527414del - NF1_000039 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.889-30_889-26del, NM_001042492.2:c.889-30_889-26del, NM_001128147.2:c.889-30_889-26del r.(=) p.(=)
17 Parent #2 +/+ g.41246531_41246532insT - BRCA1_000010 rs80357569 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1016_1017insA, NM_007297.3:c.875_876insA, NM_007298.3:c.787+229_787+230insA, NM_007299.3:c.787+229_787+230insA, NM_007300.3:c.1016_1017insA r.(?), r.(=) p.(Val340Glyfs*6), p.(Val293Glyfs*6), p.(=)
18 Parent #2 -/- g.48604848C>T - SMAD4_000004 rs11663402 - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.*11C>T r.(=) p.(=)
Legend