Individual #00021634

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     
0000013866 65y - - N/A Clear-cell - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001314 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     
7 Parent #2 ./. g.55238941G>A - EGFR_000004 rs17290246 - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
8 Parent #2 ./. g.90982554T>C - NBN_000042 - - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.896+38A>G r.(=) p.(=)
9 Parent #2 ./. g.21974859C>G - CDKN2A_000013 - - - - - - - Despoina Kalfakakou CDKN2A - NM_000077.4:c.-33G>C, NM_001195132.1:c.-33G>C, NM_058195.3:c.194-3652G>C, NM_058197.4:c.-33G>C r.(=) p.(=)
9 Parent #2 ./. g.35075528T>A - FANCG_000004 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1367A>T r.(?) p.(His456Leu)
11 Parent #2 ./. g.47259370G>A - DDB2_000020 - - - - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.1024-18G>A r.(=) p.(=)
13 Parent #2 ./. g.32972804G>A - BRCA2_000185 rs80358398 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.10154G>A r.(?) p.(Arg3385His)
17 Parent #2 ./. g.17119725G>A - FLCN_000001 rs41464156 - - - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.*4968C>T, NM_144997.5:c.1269C>T r.(=) p.(=)
17 Parent #2 ./. g.29422436del - NF1_000162 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.60+49del, NM_001042492.2:c.60+49del, NM_001128147.2:c.60+49del r.(=) p.(=)
18 Parent #2 ./. g.48575235G>A - SMAD4_000021 - - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.424+5G>A r.spl? p.?
18 Parent #2 ./. g.48575732G>C - SMAD4_000019 - - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.454+38G>C r.(=) p.(=)
Legend