Individual #00021072

Reference -
Gender F
Geographic origin Meganisi, Lefkada
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 4
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     
0000013986 74y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000039 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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     
3 Parent #2 -?/-? g.37035011A>G - MLH1_000022  rs56198082 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.-28A>G, NM_001167617.1:c.-544A>G, NM_001167618.1:c.-973A>G, NM_001167619.1:c.-886A>G, NM_001258271.1:c.-28A>G, NM_001258273.1:c.-660A>G, NM_001258274.1:c.-1123A>G r.(=) p.(=)
8 Parent #2 ?/? g.31001029A>G - WRN_000013 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3310-37A>G r.(=) p.(=)
9 Parent #2 ?/? g.35078227G>A - FANCG_000002 rs201153812 - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.421C>T r.(?) p.(Arg141Cys)
11 Parent #2 -/- g.108183194A>C - ATM_000009 rs150757822 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5975A>C r.(?) p.(Lys1992Thr)
14 Parent #2 ?/? g.45636210A>G - FANCM_000004 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1846A>G r.(?) p.(Arg616Gly)
16 Parent #2 ?/? g.2100367A>G - TSC2_000038 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.139-34A>G, NM_001077183.1:c.139-34A>G, NM_001114382.1:c.139-34A>G r.(=) p.(=)
16 Parent #2 -/- g.3658876G>A - SLX4_000010  rs118089506 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
17 Parent #2 -/- g.29677184C>T - NF1_000028 rs17884859 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7259-17C>T, NM_001042492.2:c.7322-17C>T r.(=) p.(=)
17 Parent #2 +/+ g.56780562C>T - RAD51C_000005 rs200293302 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.577C>T r.(?) p.(Arg193*)
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