Individual #00021818

Reference -
Gender F
Geographic origin Agios Nikolaos, Ioannina
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     
0000013979 72y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002114 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     
1 Parent #2 ?/? g.241667481C>T - FH_000044 - - Germline - - - - Despoina Kalfakakou FH - NM_000143.3:c.969G>A r.(=) p.(=)
3 Parent #2 -/- g.10091153C>T - FANCD2_000017 rs6785756 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
5 Parent #2 ?/? g.112174464A>G - APC_000118 rs148725540 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.3173A>G, NM_001127510.2:c.3173A>G, NM_001127511.2:c.3119A>G r.(?) p.(Asp1058Gly), p.(Asp1040Gly)
7 Parent #2 ?/? g.55240780G>A - EGFR_000006 rs150423237 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2024G>A, NM_201282.1:c.*4558G>A, NM_201284.1:c.*2543G>A r.(?), r.(=) p.(Arg675Gln), p.(=)
10 Parent #2 ?/? g.43606657C>T - RET_000102 - - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.1266C>T, NM_020975.4:c.1266C>T r.(=) p.(=)
10 Parent #2 ?/? g.88683297C>T - BMPR1A_000046 - - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1473+34C>T r.(=) p.(=)
16 Parent #2 -?/-? g.2134574C>T - TSC2_000165 rs369553241 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4351C>T, NM_001077183.1:c.4150C>T, NM_001114382.1:c.4282C>T r.(?) p.(Arg1451Cys), p.(Arg1384Cys), p.(Arg1428Cys)
16 Parent #2 ?/? g.3633544C>T - SLX4_000059 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.4740-33G>A r.(=) p.(=)
17 Parent #2 -?/-? g.17118542G>A - FLCN_000052 rs137852929 - Germline - - - - Despoina Kalfakakou FLCN - NM_144997.5:c.1389C>T r.(=) p.(=)
17 Parent #2 ?/? g.66511747T>G - PRKAR1A_000002 - - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.177+30T>G, NM_001276290.1:c.177+30T>G, NM_002734.4:c.177+30T>G, NM_212471.2:c.177+30T>G, NM_212472.2:c.177+30T>G r.(=) p.(=)
Legend