Individual #00016559

Reference -
Gender F
Geographic origin Albania
Geographic origin -
Population Albanian
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, OVCA
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000008687 38y - - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000008688 40y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000263 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.48027520G>C - MSH6_000007 rs61748083 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2398G>C, NM_001281492.1:c.2008G>C, NM_001281493.1:c.1492G>C, NM_001281494.1:c.1492G>C r.(?) p.(Val800Leu), p.(Val670Leu), p.(Val498Leu)
3 Parent #2 -/- g.10074529A>C - FANCD2_000020 rs45510294 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.78A>C, NM_033084.3:c.78A>C r.(?) p.(Gln26His)
3 Parent #2 ?/? g.14199602C>T - XPC_000024 rs147900621 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.1670G>A, NM_004628.4:c.1781G>A r.(?) p.(Arg557His), p.(Arg594His)
7 Parent #2 ?/? g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>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.30938513A>G - WRN_000018 rs1800390 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
8 Parent #2 ?/? g.145737701C>T - RECQL4_000002 rs34666647 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
11 Parent #2 -/- g.47236819T>G - DDB2_000001 rs199965459 - Germline - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.127+5T>G r.spl? p.?
13 Parent #2 -/- g.32893207T>A - BRCA2_000028 rs81002830 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.68-7T>A r.(=) p.(=)
16 Parent #2 ?/? g.2126628_2126629insGAA - TSC2_000057 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2837+42_2837+43insGAA, NM_001077183.1:c.2837+42_2837+43insGAA, NM_001114382.1:c.2837+42_2837+43insGAA r.(=) p.(=)
17 Parent #2 ?/? g.29554582G>A - NF1_000102 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2367G>A, NM_001042492.2:c.2367G>A, NM_001128147.2:c.*5574G>A r.(=) p.(=)
17 Parent #2 ?/? g.29587566C>T - NF1_000080 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4514+33C>T, NM_001042492.2:c.4577+33C>T r.(=) p.(=)
17 Parent #2 +/+ g.41246017_41246027del - BRCA1_000021 rs1555591596 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1521_1531del, NM_007297.3:c.1380_1390del, NM_007298.3:c.787+734_787+744del, NM_007299.3:c.787+734_787+744del, NM_007300.3:c.1521_1531del r.(?), r.(=) p.(Thr509Serfs*3), p.(Thr462Serfs*3), p.(=)
X Parent #2 ?/? g.132888149T>C - GPC3_000005 - - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.392A>G, NM_001164618.1:c.344A>G, NM_001164619.1:c.230A>G, NM_004484.3:c.392A>G r.(?) p.(Lys131Arg), p.(Lys115Arg), p.(Lys77Arg)
Legend