Individual #00021175

Reference -
Gender F
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases OVCA, SkCa
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     
0000013994 75y - - Yes - Despoina Kalfakakou

Skin Cancer (SkCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013993 75y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000255 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.(=)
3 Parent #2 ?/? g.10127653A>G - FANCD2_000034 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.3335+47A>G, NM_033084.3:c.3335+47A>G r.(=) p.(=)
7 Parent #2 -/- g.6017308G>T - PMS2_000013 rs576055272 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.2356C>A r.(?) p.(Leu786Met)
7 Parent #2 ?/? g.55269020C>T - EGFR_000015 rs182857647 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3086C>T r.(?) p.(Thr1029Met)
8 Parent #2 ?/? g.31001144A>C - WRN_000035 rs374867947 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3383+5A>C r.spl? p.?
8 Parent #2 ?/? g.145737211G>A - RECQL4_000020 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3395-39C>T - p.?
11 Parent #2 ?/? g.533440A>G - HRAS_000001 - - Germline - - - - Despoina Kalfakakou HRAS - NM_001130442.1:c.450+13T>C, NM_005343.2:c.450+13T>C, NM_176795.3:c.450+13T>C r.(=) p.(=)
11 Parent #2 ?/? g.108150168T>C - ATM_000049 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3285-50T>C r.(=) p.(=)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
22 Parent #2 -?/-? g.29121265C>T - CHEK2_000008 rs368570187 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.539G>A, NM_001257387.1:c.-368G>A, NM_007194.3:c.410G>A, NM_145862.2:c.410G>A r.(=), r.(?) p.(Arg180Gln), p.(=), p.(Arg137Gln)
Legend