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     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000013420 46y - - III Serous - 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 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.788-46C>T r.(=) p.(=)
2 Parent #2 ./. g.48033829C>G - MSH6_000004 - - - - - - - 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 - - - - - - - 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 - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1207T>C - p.?
9 Parent #2 ./. g.98221957G>C - PTCH1_000011 - - - - - - - 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 rs5030274 - - - - - - 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 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1792A>G r.(?) p.(Thr598Ala)
13 Parent #2 ./. g.32912560G>A - BRCA2_000025 rs28897724 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4068G>A r.(=) p.(=)
13 Parent #2 ./. g.32950929G>A - BRCA2_000012 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.8754+1G>A r.spl? p.?
14 Parent #2 ./. g.95574125C>G - DICER1_000003 - - - - - - - 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 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3933C>T r.(=) p.(=)
16 Parent #2 ./. g.3656645A>G - SLX4_000008 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.590T>C r.(?) p.(Val197Ala)
17 Parent #2 ./. g.29508691A>C - NF1_000023 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.*11C>T r.(=) p.(=)
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