Individual #00021549

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     
0000013921 68y - - II Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001728 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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     
6 Parent #2 ./. g.35426237C>T - FANCE_000003 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1113+20C>T r.(=) p.(=)
7 Parent #2 ./. g.6026541C>A - PMS2_000028 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1855G>T r.(?) p.(Asp619Tyr)
9 Parent #2 ./. g.21974640C>G - CDKN2A_000016 rs45456595 - - - - - - Despoina Kalfakakou CDKN2A - NM_000077.4:c.150+37G>C, NM_001195132.1:c.150+37G>C, NM_058195.3:c.194-3433G>C, NM_058197.4:c.187G>C r.(=), r.(?) p.(=), p.(Gly63Arg)
11 Parent #2 ./. g.32456726G>T - WT1_000031 rs2234581 - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.166C>A, NM_001198551.1:c.-4641C>A, NM_001198552.1:c.-4641C>A, NM_024424.3:c.166C>A, NM_024426.4:c.166C>A r.(=) p.(=)
11 Parent #2 ./. g.67257718G>A - AIP_000028 - - - - - - - Despoina Kalfakakou AIP - NM_003977.2:c.645+33G>A r.(=) p.(=)
14 Parent #2 ./. g.95584095A>C - DICER1_000005 - - - - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.1377-4T>G, NM_001271282.1:c.1377-4T>G, NM_030621.3:c.1377-4T>G, NM_177438.2:c.1377-4T>G r.spl? p.?
16 Parent #2 ./. g.3645687G>A - SLX4_000135 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1932C>T r.(=) p.(=)
17 Parent #2 ./. g.29422402G>A - NF1_000129 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.60+15G>A, NM_001042492.2:c.60+15G>A, NM_001128147.2:c.60+15G>A r.(=) p.(=)
22 Parent #2 ./. g.24143308C>T - SMARCB1_000005 rs62642539 - - - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.473+40C>T, NM_003073.3:c.500+40C>T r.(=) p.(=)
Legend