Individual #00021829

Reference -
Gender F
Geographic origin Nemea
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     
0000013854 64y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002129 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.29940409A>G - ALK_000061 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.787+35T>C r.(=) p.(=)
3 Parent #2 ./. g.37061780_37061781del - MLH1_000020 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.885-21_885-20del, NM_001167617.1:c.591-21_591-20del, NM_001167618.1:c.162-21_162-20del, NM_001167619.1:c.162-21_162-20del, NM_001258271.1:c.885-21_885-20del, NM_001258273.1:c.162-21_162-20del, NM_001258274.1:c.162-21_162-20del r.(=) p.(=)
3 Parent #2 ./. g.37067096_37067103del - MLH1_000058 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-25del, NM_001167617.1:c.745-32_745-25del, NM_001167618.1:c.316-32_316-25del, NM_001167619.1:c.316-32_316-25del, NM_001258271.1:c.1039-32_1039-25del, NM_001258273.1:c.316-32_316-25del, NM_001258274.1:c.316-32_316-25del r.(=) p.(=)
10 Parent #2 ./. g.51549473C>T - chr10_000001 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ./. g.89653834C>T - PTEN_000006 - - - - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.132C>T 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.89986130T>C - chr16_000005 rs1110400 - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ./. g.29554325C>G - NF1_000269 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2325+16C>G, NM_001042492.2:c.2325+16C>G, NM_001128147.2:c.*5317C>G r.(=) p.(=)
17 Parent #2 ./. g.29587576A>T - NF1_000082 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4514+43A>T, NM_001042492.2:c.4577+43A>T r.(=) p.(=)
17 Parent #2 ./. g.41245900T>G - BRCA1_000081 rs56012641 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1648A>C, NM_007297.3:c.1507A>C, NM_007298.3:c.787+861A>C, NM_007299.3:c.787+861A>C, NM_007300.3:c.1648A>C r.(?), r.(=) p.(Asn550His), p.(Asn503His), p.(=)
17 Parent #2 ./. g.41246092A>G - BRCA1_000083 rs55906931 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1456T>C, NM_007297.3:c.1315T>C, NM_007298.3:c.787+669T>C, NM_007299.3:c.787+669T>C, NM_007300.3:c.1456T>C r.(?), r.(=) p.(Phe486Leu), p.(Phe439Leu), p.(=)
17 Parent #2 ./. g.41251803T>C - BRCA1_000022 rs56187033 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.536A>G, NM_007297.3:c.395A>G, NM_007298.3:c.536A>G, NM_007299.3:c.536A>G, NM_007300.3:c.536A>G r.(?) p.(Tyr179Cys), p.(Tyr132Cys)
19 Parent #2 ./. g.33792760C>G - CEBPA_000007 - - - - - - - Despoina Kalfakakou CEBPA - NM_004364.3:c.561G>C r.(=) p.(=)
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