Individual #00021224

Reference -
Gender F
Geographic origin Asia Minor
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     
0000013842 64y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000381 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.233199104G>A - DIS3L2_000021 rs755587493 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8951G>A, NM_152383.4:c.2184G>A r.(=) p.(=)
3 Parent #2 -/- g.52436267C>T - BAP1_000025 rs139307137 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.*37G>A r.(=) p.(=)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -?/-? g.2905204_2905205insCC - CDKN1C_000002 rs34289096 - Germline - - - - Despoina Kalfakakou CDKN1C - NM_000076.2:c.*5+24_*5+25insGG, NM_001122630.1:c.*5+24_*5+25insGG, NM_001122631.1:c.*5+24_*5+25insGG r.(=) p.(=)
11 Parent #2 ?/? g.22647116C>A - FANCF_000002 rs145057187 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.241G>T r.(?) p.(Ala81Ser)
16 Parent #2 ?/? g.2129455G>A - TSC2_000066 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3284+26G>A, NM_001077183.1:c.3152+26G>A, NM_001114382.1:c.3284+26G>A r.(=) p.(=)
16 Parent #2 -?/-? g.2137949C>T - TSC2_000076 rs773821477 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+7C>T, NM_001077183.1:c.4867+7C>T, NM_001114382.1:c.4999+7C>T r.(=) p.(=)
17 Parent #2 ?/? g.29557953G>A - NF1_000125 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3197+10G>A, NM_001042492.2:c.3197+10G>A r.(=) p.(=)
17 Parent #2 ?/? g.29557960C>T - NF1_000126 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3197+17C>T, NM_001042492.2:c.3197+17C>T r.(=) p.(=)
17 Parent #2 ?/? g.29557966G>A - NF1_000127 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3197+23G>A, NM_001042492.2:c.3197+23G>A r.(=) p.(=)
Legend