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     

OvCa FH     

Subtype     

Owner     
0000013403 45y - - 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 rs181852377 - Germline - - - - 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 rs576269342 - Germline - - - - 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 rs145211300 - Germline - - - - 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 - Germline - - - - 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 rs1554085979 - Germline - - - - 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 - Germline - - - - 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 rs587780709 - Germline - - - - 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 - - Germline - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.1219C>T r.(=) p.(=)
14 Parent #2 ?/? g.45639980T>C - FANCM_000017 rs76620062 - Germline - - - - 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 rs200807331 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2006G>A r.(?) p.(Arg669His)
17 Parent #2 ?/? g.74473698C>A - RHBDF2_000003 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.602-47C>T, NM_003073.3:c.629-47C>T r.(=) p.(=)
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