Individual #00021048

Reference -
Gender F
Geographic origin -
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     
0000013632 55y - - I Mixed - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000028 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou



Variants

18 entries on 1 page. Showing entries 1 - 18.
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.48032717T>A - MSH6_000003 - - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
2 Parent #2 ./. g.190718671C>T - PMS1_000006 - - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.829C>T, NM_001128143.1:c.712C>T, NM_001128144.1:c.829C>T r.(?) p.(Arg277*), p.(Arg238*)
3 Parent #2 ./. g.37045863C>A - MLH1_000021 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.307-29C>A, NM_001167617.1:c.13-29C>A, NM_001167618.1:c.-417-29C>A, NM_001167619.1:c.-325-29C>A, NM_001258271.1:c.307-29C>A, NM_001258273.1:c.-417-29C>A, NM_001258274.1:c.-417-29C>A r.(=) p.(=)
3 Parent #2 ./. g.37048579A>G - MLH1_000018 rs4647246 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.453+25A>G, NM_001167617.1:c.159+25A>G, NM_001167618.1:c.-271+25A>G, NM_001167619.1:c.-179+25A>G, NM_001258271.1:c.453+25A>G, NM_001258273.1:c.-271+25A>G, NM_001258274.1:c.-271+25A>G r.(=) p.(=)
3 Parent #2 ./. g.52436441C>A - BAP1_000011 - - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.2057-4G>T r.spl? p.?
6 Parent #2 ./. g.35425721C>T - FANCE_000002 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.929C>T r.(?) p.(Pro310Leu)
6 Parent #2 ./. g.35434083G>A - FANCE_000001 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1572G>A r.(=) p.(=)
8 Parent #2 ./. g.90990521T>C - NBN_000003 rs61754966 - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.511A>G r.(?) p.(Ile171Val)
9 Parent #2 ./. g.97912307T>A - FANCC_000001 rs1800365 - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.584A>T, NM_001243743.1:c.584A>T, NM_001243744.1:c.584A>T r.(?) p.(Asp195Val)
14 Parent #2 ./. g.45658526T>A - FANCM_000010 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.5301T>A r.(?) p.(Asp1767Glu)
15 Parent #2 ./. g.89848480_89848481insG - FANCI_000014 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3186+7_3186+8insG, NM_018193.2:c.3006+7_3006+8insG r.(=) p.(=)
16 Parent #2 ./. g.14026008T>C - ERCC4_000003 - - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.974-6T>C r.(=) p.(=)
16 Parent #2 ./. g.89986091G>A - chr16_000003 rs11547464 - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ./. g.29422306G>C - NF1_000020 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.-22G>C, NM_001042492.2:c.-22G>C, NM_001128147.2:c.-22G>C r.(=) p.(=)
17 Parent #2 ./. g.29508818G>T - NF1_000024 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.730+15G>T, NM_001042492.2:c.730+15G>T, NM_001128147.2:c.730+15G>T r.(=) p.(=)
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.59885786T>G - BRIP1_000003 - - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.918+42A>C r.(=) p.(=)
17 Parent #2 ./. g.59924572G>A - BRIP1_000005 rs4988345 - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.517C>T r.(?) p.(Arg173Cys)
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