Individual #00021742

Reference -
Gender F
Geographic origin Athens
Geographic origin Samos
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     
0000013387 44y - - N/A Clear-cell - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001977 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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.96931080G>C - TMEM127_000013 - - - - - - - Despoina Kalfakakou TMEM127 - NM_001193304.2:c.40C>G, NM_017849.3:c.40C>G r.(?) p.(Arg14Gly)
2 Parent #2 ./. g.233201351_233201359del - DIS3L2_000045 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-6704_1582-6696del, NM_152383.4:c.*11_*19del r.(=) p.(=)
10 Parent #2 ./. g.89690764A>G - PTEN_000007 - - - - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.210-39A>G r.(=) p.(=)
11 Parent #2 ./. g.47256494T>G - DDB2_000030 - - - - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.880+9T>G r.(=) p.(=)
12 Parent #2 ./. g.121437263_121437265del - HNF1A_000050 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1624-23_1624-21del r.(=) p.(=)
13 Parent #2 ./. g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.380+37A>G r.(=) p.(=)
13 Parent #2 ./. g.49047451A>G - RB1_000006 rs4151610 - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2490-45A>G r.(=) p.(=)
13 Parent #2 ./. g.49050826G>A - RB1_000001 rs4151624 - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2521-11G>A r.(=) p.(=)
15 Parent #2 ./. g.40462846T>C - BUB1B_000007 rs28989189 - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
16 Parent #2 ./. g.2137888A>G - TSC2_000089 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5014A>G, NM_001077183.1:c.4813A>G, NM_001114382.1:c.4945A>G r.(?) p.(Ile1672Val), p.(Ile1605Val), p.(Ile1649Val)
16 Parent #2 ./. g.3639059G>A - SLX4_000013 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.4580C>T r.(?) p.(Pro1527Leu)
17 Parent #2 ./. g.59924512C>T - BRIP1_000004 rs4988346 - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.577G>A r.(?) p.(Val193Ile)
18 Parent #2 ./. g.48575235G>A - SMAD4_000021 - - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.424+5G>A r.spl? p.?
18 Parent #2 ./. g.48575732G>C - SMAD4_000019 - - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.454+38G>C r.(=) p.(=)
X Parent #2 ./. g.132888058G>A - GPC3_000022 - - - - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.483C>T, NM_001164618.1:c.435C>T, NM_001164619.1:c.321C>T, NM_004484.3:c.483C>T r.(=) p.(=)
Legend