Individual #00021656

Reference -
Gender F
Geographic origin Hydra
Geographic origin Athens / Salamis
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     
0000013745 75y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001304 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.48026589A>G - MSH6_000022 - - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.1467A>G, NM_001281492.1:c.1077A>G, NM_001281493.1:c.561A>G, NM_001281494.1:c.561A>G r.(=) p.(=)
2 Parent #2 ./. g.48027755T>C - MSH6_000008 rs2020912 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2633T>C, NM_001281492.1:c.2243T>C, NM_001281493.1:c.1727T>C, NM_001281494.1:c.1727T>C r.(?) p.(Val878Ala), p.(Val748Ala), p.(Val576Ala)
2 Parent #2 ./. g.233199473G>A - DIS3L2_000004 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8582G>A, NM_152383.4:c.2394+28G>A r.(=) p.(=)
7 Parent #2 ./. g.6035211T>C - PMS2_000076 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.857A>G r.(?) p.(Asp286Gly)
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.(=)
11 Parent #2 ./. g.67258278C>T - AIP_000004 - - - - - - - Despoina Kalfakakou AIP - NM_003977.2:c.807C>T r.(=) p.(=)
16 Parent #2 ./. g.2138570C>T - TSC2_000005 rs45517423 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5383C>T, NM_001077183.1:c.5182C>T, NM_001114382.1:c.5314C>T r.(?) p.(Arg1795Cys), p.(Arg1728Cys), p.(Arg1772Cys)
17 Parent #2 ./. g.29683646G>A - NF1_000031 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7675+46G>A, NM_001042492.2:c.7738+46G>A r.(=) p.(=)
17 Parent #2 ./. g.36101206T>C - chr17_000006 - - - - - - - Despoina Kalfakakou - - - -
20 Parent #2 ./. g.62309839A>G - chr20_000006 rs6010620 - - - - - - Despoina Kalfakakou - - - -
Legend