Individual #00016587

Reference -
Gender F
Geographic origin Messinia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 2
Diseases BrCa, OVCA
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000008735 50y - - - - Despoina Kalfakakou
0000008736 50y - - - - Despoina Kalfakakou

Breast-ovarian cancer, familial, susceptibility to, 3 (BROVCA3)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000008737 50y - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000008738 54y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000284 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.47607081A>G - EPCAM_000002 rs115283528 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 -/- g.47690162G>T - MSH2_000002 rs187525243 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 -?/-? g.47698179A>G - MSH2_000003 rs61756467 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
3 Parent #2 ?/? g.10076517C>T - FANCD2_000022 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.377+35C>T, NM_033084.3:c.377+35C>T r.(=) p.(=)
4 Parent #2 ?/? g.55593624A>T - KIT_000017 rs745463319 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1690A>T, NM_001093772.1:c.1678A>T r.(?) p.(Asn564Tyr), p.(Asn560Tyr)
4 Parent #2 -?/-? g.55604678C>T - KIT_000014 rs767942133 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2886C>T, NM_001093772.1:c.2874C>T r.(=) p.(=)
4 Parent #2 ./. g.100239284T>A - chr4_000002 rs6413413 - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 -?/-? g.55266418G>A - EGFR_000022 rs538497054 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2710G>A r.(?) p.(Val904Ile)
9 Parent #2 ./. g.863679C>G - chr9_000011 rs74620704 - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ?/? g.108224555A>G - ATM_000077 rs376676328 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.8734A>G r.(?) p.(Arg2912Gly)
14 Parent #2 ?/? g.95574135C>T - DICER1_000016 rs201451431 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.2651-37G>A, NM_001271282.1:c.2651-37G>A, NM_030621.3:c.2651-37G>A, NM_177438.2:c.2651-37G>A r.(=) p.(=)
15 Parent #2 -?/-? g.91352464G>A - BLM_000030 rs140524886 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3849G>A r.(=) p.(=)
16 Parent #2 ?/? g.2111846C>T - TSC2_000044 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1120-26C>T, NM_001077183.1:c.1120-26C>T, NM_001114382.1:c.1120-26C>T r.(=) p.(=)
17 Parent #2 +/+ g.56787218A>G - RAD51C_000008  rs587780259 - Germline - - - Yes Despoina Kalfakakou RAD51C - NM_058216.2:c.706-2A>G r.spl? p.?
Legend