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     

OvCa FH     

Subtype     

Owner     
0000013387 44y - - 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.
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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.96931080G>C - TMEM127_000013 - - Germline - - - - 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 - - Germline - - - - 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 rs370918174 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.210-39A>G r.(=) p.(=)
11 Parent #2 ?/? g.47256494T>G - DDB2_000030 - - Germline - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.880+9T>G r.(=) p.(=)
12 Parent #2 ?/? g.121437263_121437265del - HNF1A_000050 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1624-23_1624-21del r.(=) p.(=)
13 Parent #2 ?/? g.48916887A>G - RB1_000008 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.380+37A>G r.(=) p.(=)
13 Parent #2 ?/? g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2490-45A>G r.(=) p.(=)
13 Parent #2 -/- g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2521-11G>A r.(=) p.(=)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
16 Parent #2 ?/? g.2137888A>G - TSC2_000089 rs397514974 - Germline - - - - 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 rs149362820 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.4580C>T r.(?) p.(Pro1527Leu)
17 Parent #2 ?/? g.59924512C>T - BRIP1_000004 rs4988346 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.577G>A r.(?) p.(Val193Ile)
18 Parent #2 ?/? g.48575235G>A - SMAD4_000021 rs200772603 - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.424+5G>A r.spl? p.?
18 Parent #2 ?/? g.48575732G>C - SMAD4_000019 rs201924714 - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.454+38G>C r.(=) p.(=)
X Parent #2 -?/-? g.132888058G>A - GPC3_000022 rs1603240705 - Germline - - - - 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.(=)
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