Individual #00021353

Reference -
Gender F
Geographic origin Neochori, Elis
Geographic origin Lithochori, Evrytania
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     
0000013403 45y - - N/A Serous - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000889 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.47656935A>G - MSH2_000017 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1131A>G, NM_001258281.1:c.933A>G r.(=) p.(=)
2 Parent #2 ./. g.48028273G>A - MSH6_000009 - - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3151G>A, NM_001281492.1:c.2761G>A, NM_001281493.1:c.2245G>A, NM_001281494.1:c.2245G>A r.(?) p.(Val1051Ile), p.(Val921Ile), p.(Val749Ile)
5 Parent #2 ./. g.112151320A>G - APC_000022 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.933+30A>G, NM_001127510.2:c.933+30A>G, NM_001127511.2:c.879+30A>G r.(=) p.(=)
5 Parent #2 ./. g.112175240G>C - APC_000031 rs1801166 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.3949G>C, NM_001127510.2:c.3949G>C, NM_001127511.2:c.3895G>C r.(?) p.(Glu1317Gln), p.(Glu1299Gln)
5 Parent #2 ./. g.112175865T>G - APC_000069 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.4574T>G, NM_001127510.2:c.4574T>G, NM_001127511.2:c.4520T>G r.(?) p.(Met1525Arg), p.(Met1507Arg)
5 Parent #2 ./. g.112176556G>A - APC_000006 rs34506289 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.5265G>A, NM_001127510.2:c.5265G>A, NM_001127511.2:c.5211G>A r.(=) p.(=)
9 Parent #2 ./. g.98244424T>C - PTCH1_000063 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.646A>G, NM_001083602.1:c.448A>G, NM_001083603.1:c.643A>G, NM_001083604.1:c.193A>G, NM_001083605.1:c.193A>G, NM_001083606.1:c.193A>G, NM_001083607.1:c.193A>G r.(?) p.(Met216Val), p.(Met150Val), p.(Met215Val), p.(Met65Val)
11 Parent #2 ./. g.47259719C>T - DDB2_000015 - - - - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.1219C>T r.(=) p.(=)
14 Parent #2 ./. g.45639980T>C - FANCM_000017 rs76620062 - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.2160+31T>C r.(=) p.(=)
15 Parent #2 ./. g.78894380A>C - chr15_000019 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ./. g.3645613C>T - SLX4_000049 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2006G>A r.(?) p.(Arg669His)
17 Parent #2 ./. g.74473698C>A - RHBDF2_000003 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.801+41G>T, NM_024599.5:c.888+41G>T r.(=) p.(=)
19 Parent #2 ./. g.45868133C>T - ERCC2_000055 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.557G>A, NM_001130867.1:c.485G>A r.(?) p.(Arg186His), p.(Arg162His)
22 Parent #2 ./. g.24158910C>T - SMARCB1_000012 - - - - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.602-47C>T, NM_003073.3:c.629-47C>T r.(=) p.(=)
Legend