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     

OvCa FH     

Subtype     

Owner     
0000013632 55y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000028 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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 rs189436849 - Germline - - - - 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 rs768246348 - Germline - - - - 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 rs139620056 - Germline - - - - 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 - Germline - - - - 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 rs149499021 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.2057-4G>T r.spl? p.?
6 Parent #2 ?/? g.35425721C>T - FANCE_000002 rs139600847 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.929C>T r.(?) p.(Pro310Leu)
6 Parent #2 -/- g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1572G>A r.(=) p.(=)
8 Parent #2 -?/-? g.90990521T>C   Yamamoto et al (2014)   NBN_000003 rs61754966 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.511A>G r.(?) p.(Ile171Val)
9 Parent #2 -/- g.97912307T>A - FANCC_000001 rs1800365 - Germline - - - - 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 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.5301T>A r.(?) p.(Asp1767Glu)
15 Parent #2 ?/? g.89848480_89848481insG - FANCI_000014 - - Germline - - - - 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 rs201181735 - Germline - - - - 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.29508818G>T - NF1_000024 - - Germline - - - - 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.59885786T>G - BRIP1_000003 - - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.918+42A>C r.(=) p.(=)
17 Parent #2 -?/-? g.59924572G>A - BRIP1_000005 rs4988345 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.517C>T r.(?) p.(Arg173Cys)
Legend